#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
PHF13	148479	broad.mit.edu	37	1	6680226	6680226	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:6680226T>G	ENST00000377648.4	+	3	887	c.505T>G	c.(505-507)Tcg>Gcg	p.S169A	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	169					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CGACCCCTGCTCGGGCTGGGA	0.597																																						uc001aob.3		NA																	0					0						c.(505-507)TCG>GCG		PHD finger protein 13							30.0	34.0	33.0					1																	6680226		2203	4300	6503	SO:0001583	missense	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680226T>G	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.505T>G	1.37:g.6680226T>G	ENSP00000366876:p.Ser169Ala						p.S169A	NM_153812	NP_722519	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	876	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	169					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	ENST00000377648.4	37	c.505T>G	CCDS85.1	.	.	.	.	.	.	.	.	.	.	T	7.048	0.563899	0.13498	.	.	ENSG00000116273	ENST00000377648	T	0.46063	0.88	5.77	5.77	0.91146	.	0.322418	0.32372	N	0.006194	T	0.35068	0.0919	L	0.54323	1.7	0.35250	D	0.77861	B	0.25609	0.13	B	0.21360	0.034	T	0.42430	-0.9452	10	0.19590	T	0.45	-5.0342	9.7203	0.40300	0.0:0.0764:0.0:0.9236	.	169	Q86YI8	PHF13_HUMAN	A	169	ENSP00000366876:S169A	ENSP00000366876:S169A	S	+	1	0	PHF13	6602813	1.000000	0.71417	0.995000	0.50966	0.506000	0.33950	3.550000	0.53691	2.200000	0.70718	0.459000	0.35465	TCG		0.597	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		16	31	0	0	0	0	16	31				
RHD	6007	broad.mit.edu	37	1	25611200	25611200	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:25611200C>T	ENST00000328664.4	+	2	440	c.285C>T	c.(283-285)gaC>gaT	p.D95D	RHD_ENST00000357542.4_Silent_p.D95D|RHD_ENST00000342055.5_Silent_p.D95D|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Silent_p.D95D|RHD_ENST00000417538.2_Silent_p.D95D|RHD_ENST00000454452.2_Silent_p.D95D|RHD_ENST00000423810.2_Silent_p.D95D	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	95						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTGCTGGACGGCTTCCTGA	0.572																																						uc001bjz.2		NA																	0				breast(1)	1						c.(283-285)GAC>GAT		Rh blood group D antigen isoform 1							93.0	86.0	89.0					1																	25611200		2134	3733	5867	SO:0001819	synonymous_variant	6007					integral to plasma membrane		g.chr1:25611200C>T	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.285C>T	1.37:g.25611200C>T						RHD_uc010oep.1_Silent_p.D95D|RHD_uc001bkc.2_Silent_p.D95D|RHD_uc009vrm.2_Translation_Start_Site|RHD_uc001bka.2_Silent_p.D95D|RHD_uc001bkb.2_Silent_p.D95D|RHD_uc009vrn.2_Silent_p.D95D|RHD_uc009vro.2_Silent_p.D95D|RHD_uc009vrp.2_Silent_p.D95D	p.D95D	NM_016124	NP_057208	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	343	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	95			Helical; (Potential).		Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	ENST00000328664.4	37	c.285C>T	CCDS262.1																																																																																				0.572	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		5	53	0	0	0	0	5	53				
DCDC2B	149069	broad.mit.edu	37	1	32677785	32677785	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:32677785G>C	ENST00000409358.1	+	4	510	c.510G>C	c.(508-510)caG>caC	p.Q170H		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	170	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCAAGTTGCAGAGTGGGGCTG	0.577																																						uc001bun.2		NA																	0					0						c.(508-510)CAG>CAC		doublecortin domain containing 2B							81.0	86.0	85.0					1																	32677785		2007	4177	6184	SO:0001583	missense	149069				intracellular signal transduction			g.chr1:32677785G>C	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.510G>C	1.37:g.32677785G>C	ENSP00000386870:p.Gln170His						p.Q170H	NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN			4	510	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	170			Doublecortin 2.		B7ZBC6	Missense_Mutation	SNP	ENST00000409358.1	37	c.510G>C	CCDS44100.1	.	.	.	.	.	.	.	.	.	.	G	5.881	0.346640	0.11126	.	.	ENSG00000222046	ENST00000409358	D	0.92249	-3.0	4.53	-1.03	0.10102	Doublecortin domain (5);	.	.	.	.	D	0.86806	0.6021	L	0.54323	1.7	0.09310	N	0.999995	B	0.15141	0.012	B	0.20577	0.03	T	0.74259	-0.3723	9	0.40728	T	0.16	.	3.4133	0.07366	0.1698:0.4632:0.2388:0.1282	.	170	A2VCK2	DCD2B_HUMAN	H	170	ENSP00000386870:Q170H	ENSP00000386870:Q170H	Q	+	3	2	DCDC2B	32450372	0.995000	0.38212	0.016000	0.15963	0.386000	0.30323	0.729000	0.26028	-0.036000	0.13669	-0.882000	0.02950	CAG		0.577	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		8	87	0	0	0	0	8	87				
AGO1	26523	broad.mit.edu	37	1	36367908	36367909	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:36367908_36367909CC>TA	ENST00000373204.4	+	11	1580_1581	c.1367_1368CC>TA	c.(1366-1368)cCC>cTA	p.P456L	AGO1_ENST00000373206.1_Missense_Mutation_p.P381L	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	456					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TGCTTCGCACCCCAAAAACAGT	0.574																																						uc001bzl.2		NA																	0				ovary(2)|skin(1)	3						c.(1366-1368)CCC>CTA		eukaryotic translation initiation factor 2C, 1																																				SO:0001583	missense	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36367908_36367909CC>TA	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	Exception_encountered	1.37:g.36367908_36367909delinsTA	ENSP00000362300:p.Pro456Leu					EIF2C1_uc001bzk.2_Missense_Mutation_p.P381L|EIF2C1_uc009vuy.2_Intron	p.P456L	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			11	1580_1581	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	456					Q5TA57|Q6P4S0	Missense_Mutation	DNP	ENST00000373204.4	37	c.1367_1368CC>TA	CCDS398.1																																																																																				0.574	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			20	53	0	0	0	0	20	53				
HEYL	26508	broad.mit.edu	37	1	40092678	40092678	+	Missense_Mutation	SNP	G	G	A	rs139668981	byFrequency	TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:40092678G>A	ENST00000372852.3	-	5	807	c.488C>T	c.(487-489)tCg>tTg	p.S163L	HEYL_ENST00000535435.1_Missense_Mutation_p.S135L	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	163	Pro-rich.				atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCGTGGGCGAAGGCTCCAT	0.652																																						uc001cdp.2		NA																	0				ovary(1)	1						c.(487-489)TCG>TTG		hairy/enhancer-of-split related with YRPW		G	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	67.0	60.0	63.0		488	2.0	0.1	1	dbSNP_134	63	0,8600		0,0,4300	yes	missense	HEYL	NM_014571.3	145	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	163/329	40092678	3,13003	2203	4300	6503	SO:0001583	missense	26508				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:40092678G>A	BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"""Basic helix-loop-helix proteins"""	4882	protein-coding gene	gene with protein product	"""hairy/enhancer-of-split related with YRPW motif 3"""	609034	"""hairy/enhancer-of-split related with YRPW motif-like"""			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.488C>T	1.37:g.40092678G>A	ENSP00000361943:p.Ser163Leu					HEYL_uc010oiw.1_Missense_Mutation_p.S135L	p.S163L	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		5	539	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	163			Pro-rich.		Q5TG99	Missense_Mutation	SNP	ENST00000372852.3	37	c.488C>T	CCDS439.1	.	.	.	.	.	.	.	.	.	.	G	7.414	0.635416	0.14322	6.81E-4	0.0	ENSG00000163909	ENST00000372852;ENST00000535435	T;T	0.60040	0.23;0.22	5.02	2.02	0.26589	.	0.341096	0.30501	N	0.009484	T	0.49047	0.1534	L	0.58101	1.795	0.20196	N	0.999926	B	0.13145	0.007	B	0.08055	0.003	T	0.43653	-0.9378	10	0.49607	T	0.09	-16.095	8.0745	0.30708	0.1279:0.1326:0.7395:0.0	.	163	Q9NQ87	HEYL_HUMAN	L	163;135	ENSP00000361943:S163L;ENSP00000439071:S135L	ENSP00000361943:S163L	S	-	2	0	HEYL	39865265	0.002000	0.14202	0.083000	0.20561	0.107000	0.19398	0.847000	0.27696	0.131000	0.18576	0.462000	0.41574	TCG		0.652	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001179.2	NM_014571		15	36	0	0	0	0	15	36				
RLF	6018	broad.mit.edu	37	1	40701683	40701683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:40701683G>C	ENST00000372771.4	+	8	1336	c.1309G>C	c.(1309-1311)Gat>Cat	p.D437H		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	437					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTTGCAACCAGATCAAAAATT	0.368																																						uc001cfc.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1309-1311)GAT>CAT		rearranged L-myc fusion							84.0	94.0	90.0					1																	40701683		2200	4299	6499	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40701683G>C		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1309G>C	1.37:g.40701683G>C	ENSP00000361857:p.Asp437His					RLF_uc001cfd.3_Missense_Mutation_p.D128H	p.D437H	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	1340	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	437					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.1309G>C	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493865	0.64186	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.45668	0.89	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69727	-0.5067	10	0.87932	D	0	-20.1481	20.6593	0.99626	0.0:0.0:1.0:0.0	.	130;437	F5H2M5;Q13129	.;RLF_HUMAN	H	437;130	ENSP00000361857:D437H	ENSP00000361857:D437H	D	+	1	0	RLF	40474270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAT		0.368	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		23	111	0	0	0	0	23	111				
AK5	26289	broad.mit.edu	37	1	77752661	77752661	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:77752661A>C	ENST00000354567.2	+	2	359	c.96A>C	c.(94-96)gaA>gaC	p.E32D	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000344720.5_Missense_Mutation_p.E6D	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	32					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTAAGCCCGAAGATCCAGTAG	0.338																																						uc001dhn.2		NA																	0				skin(1)	1						c.(94-96)GAA>GAC		adenylate kinase 5 isoform 1							78.0	81.0	80.0					1																	77752661		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77752661A>C	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.96A>C	1.37:g.77752661A>C	ENSP00000346577:p.Glu32Asp					AK5_uc001dho.2_Missense_Mutation_p.E6D|AK5_uc001dhm.1_Missense_Mutation_p.E32D	p.E32D	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			2	353	+			32					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.96A>C	CCDS675.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.529057	0.27387	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.83075	-1.18;-0.61;-1.68	5.59	4.35	0.52113	Dpy-30 motif (1);cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (1);	0.055310	0.64402	D	0.000001	T	0.55049	0.1896	N	0.26042	0.785	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.14023	0.01;0.007	T	0.53549	-0.8423	10	0.16420	T	0.52	-26.724	8.6254	0.33886	0.6326:0.0:0.0:0.3674	.	32;32	Q9Y6K8;Q8N291	KAD5_HUMAN;.	D	32;6;6	ENSP00000346577:E32D;ENSP00000341430:E6D;ENSP00000434409:E6D	ENSP00000341430:E6D	E	+	3	2	AK5	77525249	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	3.454000	0.52986	2.266000	0.75297	0.528000	0.53228	GAA		0.338	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		34	44	0	0	0	0	34	44				
SYDE2	84144	broad.mit.edu	37	1	85630216	85630216	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:85630216G>A	ENST00000341460.5	-	6	3127	c.3078C>T	c.(3076-3078)ctC>ctT	p.L1026L		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1026	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TACCTGGCCAGAGTTGGAGTA	0.318																																						uc009wcm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3076-3078)CTC>CTT		synapse defective 1, Rho GTPase, homolog 2							39.0	36.0	37.0					1																	85630216		1810	4088	5898	SO:0001819	synonymous_variant	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85630216G>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3078C>T	1.37:g.85630216G>A							p.L1026L	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	6	3127	-			1026			Rho-GAP.		Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	ENST00000341460.5	37	c.3078C>T	CCDS44169.1																																																																																				0.318	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			5	11	0	0	0	0	5	11				
HFM1	164045	broad.mit.edu	37	1	91861862	91861862	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:91861862G>A	ENST00000370425.3	-	3	270	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	58					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AACAGTTTATGACTTTCTAAT	0.348																																						uc001doa.3		NA																	0					0						c.(172-174)CAT>TAT		HFM1 protein							77.0	72.0	74.0					1																	91861862		2203	4299	6502	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91861862G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.172C>T	1.37:g.91861862G>A	ENSP00000359454:p.His58Tyr					HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.H58Y	p.H58Y	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	3	272	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	58					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.172C>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	2.853	-0.237824	0.05944	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000455133	T;T	0.57752	0.38;1.57	5.48	-0.0579	0.13799	.	.	.	.	.	T	0.07683	0.0193	N	0.08118	0	0.18873	N	0.999988	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.31052	-0.9957	9	0.11485	T	0.65	.	1.5899	0.02652	0.2668:0.1435:0.4429:0.1468	.	58;58	B7ZM16;A2PYH4	.;HFM1_HUMAN	Y	58;91;58	ENSP00000359454:H58Y;ENSP00000409827:H58Y	ENSP00000359454:H58Y	H	-	1	0	HFM1	91634450	0.000000	0.05858	0.296000	0.24974	0.606000	0.37113	-0.289000	0.08365	0.252000	0.21531	0.655000	0.94253	CAT		0.348	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		7	26	0	0	0	0	7	26				
COL11A1	1301	broad.mit.edu	37	1	103480096	103480096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:103480096G>A	ENST00000370096.3	-	13	1855	c.1543C>T	c.(1543-1545)Cag>Tag	p.Q515*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Q527*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q399*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q476*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	515	Telopeptide.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTTGAGCCTGAGCTTCCTGA	0.418																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1543-1545)CAG>TAG		alpha 1 type XI collagen isoform A							104.0	88.0	93.0					1																	103480096		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103480096G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1543C>T	1.37:g.103480096G>A	ENSP00000359114:p.Gln515*					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Nonsense_Mutation_p.Q527*|COL11A1_uc001dun.2_Nonsense_Mutation_p.Q476*|COL11A1_uc009weh.2_Nonsense_Mutation_p.Q399*	p.Q515*	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	13	1861	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	515			Telopeptide.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.1543C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	41	8.674117	0.98910	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.5815	0.95469	0.0:0.0:1.0:0.0	.	.	.	.	X	515;527;476;399;527	.	ENSP00000302551:Q476X	Q	-	1	0	COL11A1	103252684	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.942000	0.92970	2.620000	0.88729	0.655000	0.94253	CAG		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	33	0	0	0	0	7	33				
NTNG1	22854	broad.mit.edu	37	1	107691398	107691398	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:107691398G>A	ENST00000370068.1	+	2	1029	c.183G>A	c.(181-183)ctG>ctA	p.L61L	NTNG1_ENST00000370072.3_Silent_p.L61L|NTNG1_ENST00000370067.1_Silent_p.L61L|NTNG1_ENST00000370061.3_Silent_p.L61L|NTNG1_ENST00000370073.2_Silent_p.L61L|NTNG1_ENST00000370065.1_Silent_p.L61L|NTNG1_ENST00000370070.2_Silent_p.L61L|NTNG1_ENST00000542803.1_Silent_p.L61L|NTNG1_ENST00000370074.4_Silent_p.L61L|NTNG1_ENST00000370066.1_Silent_p.L61L|NTNG1_ENST00000370071.2_Silent_p.L61L			Q9Y2I2	NTNG1_HUMAN	netrin G1	61	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CAAAATATCTGAAAGTGAAAC	0.423																																						uc001dvh.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(181-183)CTG>CTA		netrin G1 isoform 1							130.0	134.0	133.0					1																	107691398		2203	4300	6503	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107691398G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.183G>A	1.37:g.107691398G>A						NTNG1_uc001dvf.3_Silent_p.L61L|NTNG1_uc010out.1_Silent_p.L61L|NTNG1_uc001dvc.3_Silent_p.L61L|NTNG1_uc001dvd.1_Silent_p.L61L	p.L61L	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	2	901	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	61			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.183G>A	CCDS44180.1																																																																																				0.423	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		21	96	0	0	0	0	21	96				
GPR61	83873	broad.mit.edu	37	1	110086037	110086037	+	Silent	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:110086037C>G	ENST00000527748.1	+	2	1076	c.393C>G	c.(391-393)ctC>ctG	p.L131L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGCCATCCTCTCGGTGTCAG	0.607																																						uc001dxy.2		NA																	0				central_nervous_system(2)	2						c.(391-393)CTC>CTG		G protein-coupled receptor 61							109.0	97.0	101.0					1																	110086037		2203	4300	6503	SO:0001819	synonymous_variant	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086037C>G	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.393C>G	1.37:g.110086037C>G							p.L131L	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1076	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	131			Helical; Name=3; (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	c.393C>G	CCDS801.1																																																																																				0.607	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			22	92	0	0	0	0	22	92				
SPAG17	200162	broad.mit.edu	37	1	118693935	118693935	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:118693935G>C	ENST00000336338.5	-	2	210	c.145C>G	c.(145-147)Ctc>Gtc	p.L49V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	49						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCTTGGATGAGAAGATCATCT	0.453																																						uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(145-147)CTC>GTC		sperm associated antigen 17							108.0	87.0	94.0					1																	118693935		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118693935G>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.145C>G	1.37:g.118693935G>C	ENSP00000337804:p.Leu49Val						p.L49V	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	2	213	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	49					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.145C>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274551	0.40194	.	.	ENSG00000155761	ENST00000336338	T	0.20463	2.07	5.93	5.02	0.67125	.	0.180408	0.48286	D	0.000199	T	0.10078	0.0247	L	0.54323	1.7	0.21802	N	0.99954	P	0.42296	0.775	B	0.37304	0.246	T	0.05716	-1.0868	10	0.38643	T	0.18	.	14.0667	0.64834	0.0:0.0:0.8496:0.1504	.	49	Q6Q759	SPG17_HUMAN	V	49	ENSP00000337804:L49V	ENSP00000337804:L49V	L	-	1	0	SPAG17	118495458	1.000000	0.71417	0.411000	0.26484	0.195000	0.23768	5.752000	0.68728	1.516000	0.48900	0.655000	0.94253	CTC		0.453	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		8	41	0	0	0	0	8	41				
NBPF10	100132406	broad.mit.edu	37	1	145301812	145301812	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:145301812G>A	ENST00000369339.3	+	4	521	c.268G>A	c.(268-270)Gag>Aag	p.E90K	NBPF10_ENST00000369338.1_Missense_Mutation_p.E90K|NBPF10_ENST00000342960.5_Missense_Mutation_p.E361K|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	361						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)		CAAGCAAGCTGAGGAGCTCAG	0.522																																						uc001end.3		NA																	0					0						c.(1081-1083)GAG>AAG		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145301812G>A	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.268G>A	1.37:g.145301812G>A	ENSP00000358345:p.Glu90Lys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E361K|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.E90K	p.E361K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	7	1116	+	all_hematologic(923;0.032)		361					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.1081G>A		.	.	.	.	.	.	.	.	.	.	.	12.02	1.812926	0.32053	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.09073	3.02;4.08	0.616	0.616	0.17613	.	.	.	.	.	T	0.05044	0.0135	L	0.58428	1.81	0.09310	N	1	P;P	0.42203	0.773;0.593	B;P	0.45577	0.407;0.486	T	0.29579	-1.0007	8	0.59425	D	0.04	.	.	.	.	.	90;90	A8MQ30;Q86T75-2	.;.	K	286;90;90;361	ENSP00000358344:E90K;ENSP00000345684:E361K	ENSP00000345684:E361K	E	+	1	0	NBPF10	144013169	0.000000	0.05858	0.007000	0.13788	0.020000	0.10135	-0.865000	0.04250	0.608000	0.30000	0.162000	0.16502	GAG		0.522	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		28	183	0	0	0	0	28	183				
ITGA10	8515	broad.mit.edu	37	1	145536002	145536002	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:145536002G>C	ENST00000369304.3	+	17	2269	c.2094G>C	c.(2092-2094)atG>atC	p.M698I	ITGA10_ENST00000539363.1_Missense_Mutation_p.M555I|ITGA10_ENST00000538811.1_Missense_Mutation_p.M567I	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	698					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATTCAGACATGAGGTTCACCG	0.542																																						uc001eoa.2		NA																	0				lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(2092-2094)ATG>ATC		integrin, alpha 10 precursor							149.0	141.0	143.0					1																	145536002		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145536002G>C	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2094G>C	1.37:g.145536002G>C	ENSP00000358310:p.Met698Ile					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.M567I|ITGA10_uc009wiw.2_Missense_Mutation_p.M555I|ITGA10_uc010oyw.1_Missense_Mutation_p.M643I	p.M698I	NM_003637	NP_003628	O75578	ITA10_HUMAN			17	2170	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		698			Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.2094G>C	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	1.698	-0.502191	0.04261	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.39229	1.09;1.09;1.09	5.28	-1.28	0.09318	Integrin alpha-2 (1);	1.052640	0.07348	N	0.881966	T	0.02649	0.0080	N	0.01493	-0.835	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.30880	-0.9963	10	0.02654	T	1	.	1.0889	0.01659	0.3213:0.2926:0.2506:0.1355	.	664;567;555;698	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	I	698;664;555;567	ENSP00000358310:M698I;ENSP00000439894:M555I;ENSP00000440011:M567I	ENSP00000358310:M698I	M	+	3	0	ITGA10	144247359	0.001000	0.12720	0.000000	0.03702	0.147000	0.21601	-0.156000	0.10100	-0.056000	0.13221	-0.521000	0.04368	ATG		0.542	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		30	108	0	0	0	0	30	108				
TUFT1	7286	broad.mit.edu	37	1	151552206	151552206	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:151552206G>C	ENST00000368849.3	+	11	1068	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	TUFT1_ENST00000538902.1_Missense_Mutation_p.E355Q|TUFT1_ENST00000353024.3_Missense_Mutation_p.E277Q|TUFT1_ENST00000392712.3_Missense_Mutation_p.E281Q|TUFT1_ENST00000368848.2_Missense_Mutation_p.E311Q	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	336					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTGGAGGCAGAGGTGTGTGT	0.532																																						uc001eyl.2		NA																	0					0						c.(1006-1008)GAG>CAG		tuftelin 1 isoform 1							60.0	54.0	56.0					1																	151552206		2203	4300	6503	SO:0001583	missense	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151552206G>C	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.1006G>C	1.37:g.151552206G>C	ENSP00000357842:p.Glu336Gln					TUFT1_uc001eym.2_Missense_Mutation_p.E311Q|TUFT1_uc010pdf.1_Missense_Mutation_p.E355Q|TUFT1_uc010pdg.1_Missense_Mutation_p.E284Q	p.E336Q	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		11	1068	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		336			Potential.		B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	c.1006G>C	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	G	34	5.335110	0.95758	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	L	0.52364	1.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.42899	-0.9424	10	0.44086	T	0.13	-30.8409	18.0311	0.89285	0.0:0.0:1.0:0.0	.	355;311;336	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	Q	336;281;277;311;355	ENSP00000357842:E336Q;ENSP00000376476:E281Q;ENSP00000343781:E277Q;ENSP00000357841:E311Q;ENSP00000437997:E355Q	ENSP00000343781:E277Q	E	+	1	0	TUFT1	149818830	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.829000	0.92055	2.857000	0.98124	0.650000	0.86243	GAG		0.532	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		5	12	0	0	0	0	5	12				
ADAR	103	broad.mit.edu	37	1	154573540	154573540	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:154573540C>T	ENST00000368474.4	-	2	1777	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q	ADAR_ENST00000292205.5_Silent_p.Q569Q|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000368471.3_Silent_p.Q231Q	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	526	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTGGTCCACTCTGCTCTATCA	0.517																																						uc001ffh.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1576-1578)CAG>CAA		adenosine deaminase, RNA-specific isoform a							111.0	117.0	115.0					1																	154573540		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154573540C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1578G>A	1.37:g.154573540C>T						ADAR_uc001ffj.2_Silent_p.Q526Q|ADAR_uc001ffi.2_Silent_p.Q526Q|ADAR_uc001ffk.2_Silent_p.Q231Q|ADAR_uc001ffl.1_Silent_p.Q231Q	p.Q526Q	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	1778	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		526			DRBM 1.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.1578G>A	CCDS1071.1																																																																																				0.517	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		18	97	0	0	0	0	18	97				
TRIM46	80128	broad.mit.edu	37	1	155156625	155156625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:155156625G>A	ENST00000334634.4	+	10	2239	c.2239G>A	c.(2239-2241)Gag>Aag	p.E747K	RP11-201K10.3_ENST00000473363.2_Intron|MUC1_ENST00000462215.1_5'Flank|TRIM46_ENST00000368382.1_Missense_Mutation_p.E724K|TRIM46_ENST00000545012.1_Missense_Mutation_p.E621K|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	747	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E747Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACTAAGCCTGAGAGGAAAGT	0.642																																						uc001fhs.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2239-2241)GAG>AAG		tripartite motif-containing 46							36.0	36.0	36.0					1																	155156625		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155156625G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.2239G>A	1.37:g.155156625G>A	ENSP00000334657:p.Glu747Lys					RAG1AP1_uc010pey.1_Intron|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.E621K|TRIM46_uc001fhu.1_Missense_Mutation_p.E724K|TRIM46_uc001fhw.1_RNA	p.E747K	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		10	2322	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		747			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.2239G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841591	0.32513	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.65178	-0.14;0.32;0.37	4.18	4.18	0.49190	B30.2/SPRY domain (1);	0.084158	0.48286	D	0.000185	T	0.22513	0.0543	N	0.08118	0	0.30836	N	0.736173	B	0.24963	0.115	B	0.24974	0.057	T	0.07908	-1.0748	10	0.25751	T	0.34	.	12.3844	0.55325	0.0:0.0:1.0:0.0	.	747	Q7Z4K8	TRI46_HUMAN	K	705;621;724;747	ENSP00000440254:E621K;ENSP00000357366:E724K;ENSP00000334657:E747K	ENSP00000334657:E747K	E	+	1	0	TRIM46	153423249	0.999000	0.42202	0.980000	0.43619	0.692000	0.40212	3.234000	0.51320	2.060000	0.61445	0.305000	0.20034	GAG		0.642	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		5	23	0	0	0	0	5	23				
RAB25	57111	broad.mit.edu	37	1	156038115	156038115	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:156038115G>T	ENST00000361084.5	+	3	535	c.294G>T	c.(292-294)caG>caT	p.Q98H	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	98					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CCAAGCACCAGACCTATGCTG	0.547																																						uc001fnc.2		NA																	0					0						c.(292-294)CAG>CAT		RAB25							107.0	107.0	107.0					1																	156038115		2143	4267	6410	SO:0001583	missense	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156038115G>T	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.294G>T	1.37:g.156038115G>T	ENSP00000354376:p.Gln98His						p.Q98H	NM_020387	NP_065120	P57735	RAB25_HUMAN			3	520	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		98					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	ENST00000361084.5	37	c.294G>T	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634695	0.67130	.	.	ENSG00000132698	ENST00000361084	T	0.80214	-1.35	5.23	3.29	0.37713	Small GTP-binding protein domain (1);	0.135928	0.51477	N	0.000092	T	0.71702	0.3371	L	0.46614	1.455	0.41728	D	0.989542	P	0.42993	0.797	P	0.47118	0.538	T	0.72447	-0.4291	10	0.45353	T	0.12	.	14.3814	0.66914	0.0:0.2819:0.7181:0.0	.	98	P57735	RAB25_HUMAN	H	98	ENSP00000354376:Q98H	ENSP00000354376:Q98H	Q	+	3	2	RAB25	154304739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.604000	0.46274	0.722000	0.32252	0.655000	0.94253	CAG		0.547	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			68	77	1	0	9.56e-27	1.09e-26	68	77				
CD1B	910	broad.mit.edu	37	1	158300658	158300658	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:158300658C>G	ENST00000368168.3	-	2	363	c.256G>C	c.(256-258)Gag>Cag	p.E86Q		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	86					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CGGAATATCTCCTCTAACTCA	0.458																																						uc001frx.2		NA																	0				ovary(2)	2						c.(256-258)GAG>CAG		CD1B antigen precursor							285.0	284.0	284.0					1																	158300658		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300658C>G	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.256G>C	1.37:g.158300658C>G	ENSP00000357150:p.Glu86Gln					CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Missense_Mutation_p.E86Q	p.E86Q	NM_001764	NP_001755	P29016	CD1B_HUMAN			2	364	-	all_hematologic(112;0.0378)		86			Extracellular (Potential).		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.256G>C	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.039|7.039	0.562221|0.562221	0.13498|0.13498	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000368168|ENST00000451207	T|.	0.05925|.	3.37|.	4.01|4.01	3.09|3.09	0.35607|0.35607	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.899723|.	0.09290|.	N|.	0.822478|.	T|T	0.31765|0.31765	0.0807|0.0807	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	1|1	B;B|.	0.32324|.	0.364;0.005|.	B;B|.	0.40825|.	0.341;0.004|.	T|T	0.13818|0.13818	-1.0495|-1.0495	10|5	0.19147|.	T|.	0.46|.	-7.2682|-7.2682	6.8838|6.8838	0.24189|0.24189	0.0:0.8757:0.0:0.1243|0.0:0.8757:0.0:0.1243	.|.	86;86|.	B4E0D2;P29016|.	.;CD1B_HUMAN|.	Q|A	86|53	ENSP00000357150:E86Q|.	ENSP00000357150:E86Q|.	E|G	-|-	1|2	0|0	CD1B|CD1B	156567282|156567282	0.000000|0.000000	0.05858|0.05858	0.010000|0.010000	0.14722|0.14722	0.021000|0.021000	0.10359|0.10359	-0.082000|-0.082000	0.11304|0.11304	2.218000|2.218000	0.71995|0.71995	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.458	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		79	311	0	0	0	0	79	311				
OR6N1	128372	broad.mit.edu	37	1	158736156	158736156	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:158736156G>T	ENST00000335094.2	-	1	336	c.317C>A	c.(316-318)tCc>tAc	p.S106Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CGCTCCAAGGGAGTGAAAGAA	0.502																																						uc010piq.1		NA																	0				ovary(1)	1						c.(316-318)TCC>TAC		olfactory receptor, family 6, subfamily N,							70.0	68.0	69.0					1																	158736156		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736156G>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.317C>A	1.37:g.158736156G>T	ENSP00000335535:p.Ser106Tyr						p.S106Y	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	317	-	all_hematologic(112;0.0378)		106			Helical; Name=3; (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.317C>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382264	0.61845	.	.	ENSG00000197403	ENST00000335094	D	0.82711	-1.64	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000327	D	0.86426	0.5930	M	0.84948	2.725	0.37038	D	0.896995	D	0.71674	0.998	D	0.65773	0.938	D	0.85814	0.1381	10	0.02654	T	1	-21.9714	17.4367	0.87554	0.0:0.0:1.0:0.0	.	106	Q8NGY5	OR6N1_HUMAN	Y	106	ENSP00000335535:S106Y	ENSP00000335535:S106Y	S	-	2	0	OR6N1	157002780	0.001000	0.12720	0.999000	0.59377	0.832000	0.47134	0.709000	0.25734	2.623000	0.88846	0.655000	0.94253	TCC		0.502	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		12	34	1	0	5.51e-06	5.87e-06	12	34				
GPR161	23432	broad.mit.edu	37	1	168059864	168059864	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:168059864C>T	ENST00000367838.1	-	6	1455	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E	GPR161_ENST00000361697.2_Missense_Mutation_p.G381E|GPR161_ENST00000367835.1_Missense_Mutation_p.G381E|GPR161_ENST00000271357.5_Missense_Mutation_p.G381E|GPR161_ENST00000537209.1_Missense_Mutation_p.G401E|GPR161_ENST00000367836.1_Missense_Mutation_p.G249E|GPR161_ENST00000546300.1_Missense_Mutation_p.G267E|GPR161_ENST00000539777.1_Missense_Mutation_p.G303E	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	381					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CAGGGGCTGTCCACCTGCCAT	0.597																																						uc001gfc.2		NA																	0					0						c.(1141-1143)GGA>GAA		G protein-coupled receptor 161 isoform 2							42.0	40.0	41.0					1																	168059864		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168059864C>T	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1142G>A	1.37:g.168059864C>T	ENSP00000356812:p.Gly381Glu					GPR161_uc001gfb.2_Missense_Mutation_p.G249E|GPR161_uc010pll.1_Missense_Mutation_p.G291E|GPR161_uc010plm.1_Missense_Mutation_p.G267E|GPR161_uc009wvo.2_Missense_Mutation_p.G398E|GPR161_uc001gfd.2_Missense_Mutation_p.G381E|GPR161_uc010pln.1_Missense_Mutation_p.G401E|GPR161_uc001gfe.1_Missense_Mutation_p.G381E	p.G381E	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			6	1456	-	all_hematologic(923;0.215)		381			Cytoplasmic (Potential).		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.1142G>A	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223819	0.39300	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.81163	0.02;0.02;-1.46;0.02;-1.01;-0.98;0.11;0.02	5.16	2.11	0.27256	.	0.252350	0.38663	N	0.001607	T	0.56001	0.1956	L	0.46157	1.445	0.41927	D	0.990540	B;B;B;B;B;B	0.14805	0.01;0.006;0.006;0.003;0.011;0.003	B;B;B;B;B;B	0.19946	0.025;0.007;0.015;0.007;0.027;0.004	T	0.46414	-0.9193	9	0.42905	T	0.14	-4.6388	6.8655	0.24091	0.0:0.653:0.1268:0.2202	.	401;267;303;401;381;381	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	E	381;381;249;381;267;303;401;381	ENSP00000356812:G381E;ENSP00000271357:G381E;ENSP00000356810:G249E;ENSP00000356809:G381E;ENSP00000444348:G267E;ENSP00000437576:G303E;ENSP00000441039:G401E;ENSP00000355194:G381E	ENSP00000271357:G381E	G	-	2	0	GPR161	166326488	0.990000	0.36364	0.304000	0.25085	0.748000	0.42578	2.644000	0.46613	0.563000	0.29222	0.655000	0.94253	GGA		0.597	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		6	13	0	0	0	0	6	13				
TNN	63923	broad.mit.edu	37	1	175116116	175116116	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:175116116T>C	ENST00000239462.4	+	19	3922	c.3809T>C	c.(3808-3810)gTg>gCg	p.V1270A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1270	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATTCCTTACGTGGAGTTGAAA	0.522											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3808-3810)GTG>GCG		tenascin N precursor							68.0	67.0	67.0					1																	175116116		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175116116T>C	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3809T>C	1.37:g.175116116T>C	ENSP00000239462:p.Val1270Ala		OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1921		p.V1270A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	19	3922	+		Breast(1374;0.000962)	1270			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3809T>C	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182525	0.78677	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	D	0.82167	-1.58	5.8	4.65	0.58169	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.248304	0.41396	D	0.000892	T	0.72104	0.3419	N	0.20357	0.565	0.24931	N	0.991915	B	0.28850	0.225	B	0.38562	0.276	T	0.60021	-0.7344	10	0.22706	T	0.39	.	6.2594	0.20891	0.0:0.1064:0.1547:0.7389	.	1270	Q9UQP3	TENN_HUMAN	A	1270;1093	ENSP00000239462:V1270A	ENSP00000239462:V1270A	V	+	2	0	TNN	173382739	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	3.066000	0.50002	0.991000	0.38814	0.472000	0.43445	GTG		0.522	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		15	45	0	0	0	0	15	45				
TDRD5	163589	broad.mit.edu	37	1	179561846	179561846	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:179561846G>C	ENST00000367614.1	+	2	455	c.96G>C	c.(94-96)gaG>gaC	p.E32D	RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000294848.8_Missense_Mutation_p.E32D|TDRD5_ENST00000444136.1_Missense_Mutation_p.E32D	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	32	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGAGTTGGAGAAGGAGTACC	0.478																																						uc001gnf.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(94-96)GAG>GAC		tudor domain containing 5							210.0	192.0	198.0					1																	179561846		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179561846G>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.96G>C	1.37:g.179561846G>C	ENSP00000356586:p.Glu32Asp					TDRD5_uc010pnp.1_Missense_Mutation_p.E32D|uc010pno.1_5'Flank	p.E32D	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			2	346	+			32			Lotus/OST-HTH 1.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.96G>C	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796881	0.70567	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.42900	0.96;0.96;0.96	5.91	0.169	0.15017	.	0.119807	0.56097	D	0.000036	T	0.52693	0.1750	L	0.54323	1.7	0.32783	N	0.50229	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59156	-0.7507	10	0.34782	T	0.22	-1.4596	10.2717	0.43487	0.4289:0.0:0.5711:0.0	.	32;32	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	D	32	ENSP00000356586:E32D;ENSP00000294848:E32D;ENSP00000406052:E32D	ENSP00000294848:E32D	E	+	3	2	TDRD5	177828469	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	0.482000	0.22276	0.089000	0.17243	-0.345000	0.07892	GAG		0.478	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		23	106	0	0	0	0	23	106				
ZNF281	23528	broad.mit.edu	37	1	200377873	200377873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:200377873G>A	ENST00000294740.3	-	2	1085	c.961C>T	c.(961-963)Cag>Tag	p.Q321*	ZNF281_ENST00000367352.3_Nonsense_Mutation_p.Q285*|ZNF281_ENST00000367353.1_Nonsense_Mutation_p.Q321*	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	321					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ATGCTGCACTGATCACATCCA	0.403																																						uc001gve.2		NA																	0				ovary(1)|breast(1)	2						c.(961-963)CAG>TAG		zinc finger protein 281							201.0	207.0	205.0					1																	200377873		2203	4300	6503	SO:0001587	stop_gained	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377873G>A	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.961C>T	1.37:g.200377873G>A	ENSP00000294740:p.Gln321*					ZNF281_uc001gvf.1_Nonsense_Mutation_p.Q321*|ZNF281_uc001gvg.1_Nonsense_Mutation_p.Q285*	p.Q321*	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	1068	-			321			C2H2-type 3.		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Nonsense_Mutation	SNP	ENST00000294740.3	37	c.961C>T	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	36	5.962992	0.97151	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	.	.	.	5.76	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.5528	16.2291	0.82321	0.0:0.0:0.866:0.134	.	.	.	.	X	321;321;285;26	.	ENSP00000294740:Q321X	Q	-	1	0	ZNF281	198644496	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	9.714000	0.98744	1.412000	0.46977	0.655000	0.94253	CAG		0.403	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		117	171	0	0	0	0	117	171				
LGR6	59352	broad.mit.edu	37	1	202287786	202287786	+	Silent	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:202287786C>G	ENST00000367278.3	+	18	2444	c.2355C>G	c.(2353-2355)ctC>ctG	p.L785L	LGR6_ENST00000439764.2_Silent_p.L646L|LGR6_ENST00000255432.7_Silent_p.L733L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	785					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ACGGGCTCCTCTACTGTCCCG	0.647																																						uc001gxu.2		NA																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(2353-2355)CTC>CTG		leucine-rich repeat-containing G protein-coupled							96.0	78.0	84.0					1																	202287786		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287786C>G	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2355C>G	1.37:g.202287786C>G						LGR6_uc001gxv.2_Silent_p.L733L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.L646L	p.L785L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			18	2355	+			785			Helical; Name=6; (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.2355C>G	CCDS30971.1																																																																																				0.647	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		13	77	0	0	0	0	13	77				
REN	5972	broad.mit.edu	37	1	204124994	204124994	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:204124994A>G	ENST00000272190.8	-	9	1041	c.1013T>C	c.(1012-1014)cTg>cCg	p.L338P	REN_ENST00000367195.2_Missense_Mutation_p.L335P	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	338					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TTTGCCTCCCAGGTGGAAAGA	0.572																																						uc001haq.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(1012-1014)CTG>CCG		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						59.0	58.0	58.0					1																	204124994		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204124994A>G	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.1013T>C	1.37:g.204124994A>G	ENSP00000272190:p.Leu338Pro						p.L338P	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		9	1057	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		338					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.1013T>C	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377900	0.61735	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.60920	0.15;0.15	4.24	4.24	0.50183	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.141158	0.49305	D	0.000156	T	0.78521	0.4296	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83023	-0.0166	10	0.87932	D	0	.	13.0015	0.58679	1.0:0.0:0.0:0.0	.	338	P00797	RENI_HUMAN	P	335;257;338	ENSP00000356163:L335P;ENSP00000272190:L338P	ENSP00000272190:L338P	L	-	2	0	REN	202391617	1.000000	0.71417	0.987000	0.45799	0.535000	0.34838	8.215000	0.89762	1.549000	0.49425	0.383000	0.25322	CTG		0.572	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		5	27	0	0	0	0	5	27				
ELK4	2005	broad.mit.edu	37	1	205589519	205589519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:205589519C>G	ENST00000357992.4	-	3	994	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	ELK4_ENST00000468523.1_5'Flank|ELK4_ENST00000289703.4_Missense_Mutation_p.E219Q	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	219					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ATAGTTTCTTCTGAAGATGGA	0.473			T	SLC45A3	prostate																																	uc001hcy.1		NA		Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate		0					0						c.(655-657)GAA>CAA		ELK4 protein isoform a							83.0	87.0	86.0					1																	205589519		2203	4300	6503	SO:0001583	missense	2005					cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr1:205589519C>G	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.655G>C	1.37:g.205589519C>G	ENSP00000350681:p.Glu219Gln					ELK4_uc001hcz.2_Missense_Mutation_p.E219Q	p.E219Q	NM_001973	NP_001964	P28324	ELK4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1905	-	Breast(84;0.07)		219					P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.655G>C	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666768	0.29604	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.32023	1.71;1.47	5.81	5.81	0.92471	.	0.349556	0.30879	N	0.008684	T	0.28797	0.0714	L	0.27053	0.805	0.30036	N	0.813052	P;B	0.50617	0.937;0.437	P;B	0.48270	0.572;0.203	T	0.09509	-1.0671	10	0.32370	T	0.25	.	13.5955	0.61987	0.1552:0.8448:0.0:0.0	.	219;219	P28324-2;P28324	.;ELK4_HUMAN	Q	309;219;219	ENSP00000350681:E219Q;ENSP00000289703:E219Q	ENSP00000289703:E219Q	E	-	1	0	ELK4	203856142	0.287000	0.24315	1.000000	0.80357	0.989000	0.77384	0.990000	0.29642	2.746000	0.94184	0.655000	0.94253	GAA		0.473	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		19	72	0	0	0	0	19	72				
RASSF5	83593	broad.mit.edu	37	1	206760273	206760273	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:206760273A>G	ENST00000355294.4	+	6	1277	c.1220A>G	c.(1219-1221)gAg>gGg	p.E407G	EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000304534.8_Missense_Mutation_p.E254G|RASSF5_ENST00000367117.3_3'UTR	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	407	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGAAACTGGAGGAGGCCTTA	0.418																																					GBM(162;656 1984 11916 22872 31529)	uc001hed.2		NA																	0				ovary(1)	1						c.(1219-1221)GAG>GGG		Ras association (RalGDS/AF-6) domain family 5							89.0	89.0	89.0					1																	206760273		2203	4300	6503	SO:0001583	missense	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206760273A>G	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1220A>G	1.37:g.206760273A>G	ENSP00000347443:p.Glu407Gly					RASSF5_uc001hec.1_3'UTR|RASSF5_uc001hee.2_3'UTR|RASSF5_uc001hef.2_Missense_Mutation_p.E254G|RASSF5_uc001heg.1_3'UTR	p.E407G	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		6	1277	+	Breast(84;0.183)		407			SARAH.		A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.1220A>G	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.914080	0.52546	.	.	ENSG00000136653	ENST00000355294;ENST00000304534	T;T	0.13089	2.97;2.62	5.67	4.53	0.55603	SARAH (1);	0.154354	0.64402	D	0.000017	T	0.10465	0.0256	L	0.34521	1.04	0.80722	D	1	B;P	0.38745	0.034;0.645	B;B	0.33521	0.022;0.165	T	0.11916	-1.0568	10	0.35671	T	0.21	-20.4191	12.2235	0.54447	0.8574:0.1426:0.0:0.0	.	254;407	Q8WWW0-2;Q8WWW0	.;RASF5_HUMAN	G	407;254	ENSP00000347443:E407G;ENSP00000306091:E254G	ENSP00000306091:E254G	E	+	2	0	RASSF5	204826896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.870000	0.63035	0.961000	0.38030	0.533000	0.62120	GAG		0.418	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		3	49	0	0	0	0	3	49				
INTS7	25896	broad.mit.edu	37	1	212115325	212115325	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:212115325C>T	ENST00000366994.3	-	20	2834	c.2730G>A	c.(2728-2730)gtG>gtA	p.V910V	INTS7_ENST00000366992.3_Silent_p.V890V|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.V861V|INTS7_ENST00000366993.3_Silent_p.V896V	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	910					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TGGCATCTTTCACAGAAGATT	0.403																																						uc001hiw.1		NA																	0					0						c.(2728-2730)GTG>GTA		integrator complex subunit 7							165.0	162.0	163.0					1																	212115325		2203	4300	6503	SO:0001819	synonymous_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115325C>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2730G>A	1.37:g.212115325C>T						INTS7_uc009xdb.1_Silent_p.V890V|INTS7_uc001hix.1_Silent_p.V786V|INTS7_uc001hiy.1_Silent_p.V896V|INTS7_uc010pta.1_Silent_p.V861V	p.V910V	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2835	-			910					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.2730G>A	CCDS1501.1																																																																																				0.403	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		28	103	0	0	0	0	28	103				
ITPKB	3707	broad.mit.edu	37	1	226925078	226925078	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:226925078G>A	ENST00000272117.3	-	1	81	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	ITPKB_ENST00000366784.1_Missense_Mutation_p.P28S|ITPKB_ENST00000429204.1_Missense_Mutation_p.P28S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	28					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTGCCACTGGGCCCCGGGCCG	0.672																																					Colon(84;110 1851 5306 33547)	uc010pvo.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(82-84)CCC>TCC		1D-myo-inositol-trisphosphate 3-kinase B							9.0	11.0	11.0					1																	226925078		2046	4053	6099	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226925078G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.82C>T	1.37:g.226925078G>A	ENSP00000272117:p.Pro28Ser					ITPKB_uc001hqh.2_Missense_Mutation_p.P28S	p.P28S	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	422	-		Prostate(94;0.0773)	28					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.82C>T	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	7.335	0.619798	0.14193	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.20200	2.14;2.14;2.09	4.08	0.973	0.19710	.	0.882640	0.09555	N	0.786449	T	0.08891	0.0220	N	0.08118	0	0.26167	N	0.979914	B	0.17038	0.02	B	0.11329	0.006	T	0.36553	-0.9743	10	0.22109	T	0.4	.	4.032	0.09713	0.1011:0.156:0.5839:0.159	.	28	P27987	IP3KB_HUMAN	S	28	ENSP00000272117:P28S;ENSP00000411152:P28S;ENSP00000355748:P28S	ENSP00000272117:P28S	P	-	1	0	ITPKB	224991701	0.813000	0.29090	0.987000	0.45799	0.960000	0.62799	0.745000	0.26259	0.918000	0.36919	0.491000	0.48974	CCC		0.672	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		9	11	0	0	0	0	9	11				
CUBN	8029	broad.mit.edu	37	10	17147564	17147564	+	Silent	SNP	A	A	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:17147564A>T	ENST00000377833.4	-	11	1187	c.1122T>A	c.(1120-1122)ccT>ccA	p.P374P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	374	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGTGCAGAGAGGTAAGGAAC	0.443																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(1120-1122)CCT>CCA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						89.0	77.0	81.0					10																	17147564		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17147564A>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1122T>A	10.37:g.17147564A>T							p.P374P	NM_001081	NP_001072	O60494	CUBN_HUMAN			11	1174	-			374			EGF-like 5.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.1122T>A	CCDS7113.1																																																																																				0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		19	28	0	0	0	0	19	28				
VIM	7431	broad.mit.edu	37	10	17278348	17278348	+	Silent	SNP	G	G	A	rs371063888		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:17278348G>A	ENST00000224237.5	+	8	1474	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	VIM_ENST00000544301.1_Silent_p.L443L|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	443	Tail.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACACTTCTGATTAAGACGG	0.348																																						uc001iou.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1327-1329)CTG>CTA		vimentin							148.0	163.0	158.0					10																	17278348		2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17278348G>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1329G>A	10.37:g.17278348G>A						VIM_uc001iov.1_Intron|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.L443L|VIM_uc001ioy.1_Silent_p.L356L|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.L401L|VIM_uc001ipc.1_Intron	p.L443L	NM_003380	NP_003371	P08670	VIME_HUMAN			9	1742	+			443			Tail.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.1329G>A	CCDS7120.1																																																																																				0.348	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		63	117	0	0	0	0	63	117				
ENKUR	219670	broad.mit.edu	37	10	25284722	25284722	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:25284722C>T	ENST00000331161.4	-	3	519	c.300G>A	c.(298-300)caG>caA	p.Q100Q	ENKUR_ENST00000376363.1_Silent_p.Q100Q	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	100						motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTTTTCCACTCTGTATTCCCA	0.358																																						uc001isg.1		NA																	0					0						c.(298-300)CAG>CAA		enkurin							99.0	102.0	101.0					10																	25284722		2203	4300	6503	SO:0001819	synonymous_variant	219670					cilium|flagellum	calmodulin binding|SH3 domain binding	g.chr10:25284722C>T	AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"""chromosome 10 open reading frame 63"""	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.300G>A	10.37:g.25284722C>T						ENKUR_uc001ish.1_Silent_p.Q38Q	p.Q100Q	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN			3	465	-			100					A8K8Y0|D3DRV2	Silent	SNP	ENST00000331161.4	37	c.300G>A	CCDS7146.1																																																																																				0.358	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	NM_145010		27	94	0	0	0	0	27	94				
ZNF239	8187	broad.mit.edu	37	10	44052584	44052584	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:44052584C>G	ENST00000306006.6	-	2	1596	c.944G>C	c.(943-945)gGa>gCa	p.G315A	ZNF239_ENST00000535642.1_Missense_Mutation_p.G315A|ZNF239_ENST00000374446.2_Missense_Mutation_p.G315A|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000426961.1_Missense_Mutation_p.G315A	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGCTTCTCTCCAGTGTGGAC	0.522																																						uc001jaw.3		NA																	0					0						c.(943-945)GGA>GCA		zinc finger protein 239							96.0	102.0	100.0					10																	44052584		2203	4300	6503	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44052584C>G	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.944G>C	10.37:g.44052584C>G	ENSP00000307774:p.Gly315Ala					ZNF239_uc001jax.3_Missense_Mutation_p.G315A|ZNF239_uc009xmj.2_Missense_Mutation_p.G315A|ZNF239_uc009xmk.2_Missense_Mutation_p.G315A	p.G315A	NM_005674	NP_005665	Q16600	ZN239_HUMAN			2	1597	-			315					Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.944G>C	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147718	0.77888	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	3.81	3.81	0.43845	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45196	0.1330	L	0.53617	1.68	0.48901	D	0.99972	D	0.89917	1.0	D	0.87578	0.998	T	0.43180	-0.9407	9	0.72032	D	0.01	-13.0136	13.9936	0.64382	0.0:1.0:0.0:0.0	.	315	Q16600	ZN239_HUMAN	A	315	ENSP00000307774:G315A;ENSP00000363569:G315A;ENSP00000398202:G315A;ENSP00000443907:G315A	ENSP00000307774:G315A	G	-	2	0	ZNF239	43372590	0.992000	0.36948	0.817000	0.32601	0.971000	0.66376	3.515000	0.53429	2.420000	0.82092	0.585000	0.79938	GGA		0.522	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			15	68	0	0	0	0	15	68				
JMJD1C	221037	broad.mit.edu	37	10	64968896	64968896	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:64968896G>T	ENST00000399262.2	-	9	3012	c.2794C>A	c.(2794-2796)Cct>Act	p.P932T	JMJD1C_ENST00000399251.1_Missense_Mutation_p.P713T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P750T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P713T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	932					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCCGATGAGGCTCTGCACTG	0.443																																						uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2794-2796)CCT>ACT		jumonji domain containing 1C isoform a							125.0	117.0	120.0					10																	64968896		1892	4111	6003	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968896G>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2794C>A	10.37:g.64968896G>T	ENSP00000382204:p.Pro932Thr					JMJD1C_uc001jml.2_Missense_Mutation_p.P713T|JMJD1C_uc001jmm.2_Missense_Mutation_p.P644T|JMJD1C_uc010qiq.1_Missense_Mutation_p.P750T|JMJD1C_uc009xpi.2_Missense_Mutation_p.P750T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_5'Flank	p.P932T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			9	3094	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		932					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.2794C>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111497	0.77210	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	6.03	5.1	0.69264	.	0.164692	0.53938	D	0.000044	T	0.60287	0.2257	L	0.56769	1.78	0.43308	D	0.99531	D;D	0.67145	0.996;0.996	P;P	0.57502	0.822;0.822	T	0.62789	-0.6780	10	0.87932	D	0	-10.0719	15.7453	0.77936	0.0:0.2535:0.7465:0.0	.	932;750	Q15652;A0T124	JHD2C_HUMAN;.	T	932;713;713;750	ENSP00000382204:P932T;ENSP00000384990:P713T;ENSP00000382195:P713T;ENSP00000444682:P750T	ENSP00000382195:P713T	P	-	1	0	JMJD1C	64638902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.414000	0.52693	2.854000	0.98071	0.655000	0.94253	CCT		0.443	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		57	44	1	0	2.21e-31	2.53e-31	57	44				
HTR7	3363	broad.mit.edu	37	10	92508597	92508598	+	Splice_Site	DNP	GC	GC	AA			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:92508597_92508598GC>AA	ENST00000336152.3	-	2	1319_1320	c.1293_1294GC>TT	c.(1291-1296)gtGCtg>gtTTtg	p.431_432VL>VL	HTR7_ENST00000277874.6_Splice_Site_p.431_432VL>VL|HTR7_ENST00000371719.2_Silent_p.431_432VL>VL|HTR7_ENST00000371721.3_Splice_Site_p.L432F	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	431					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TGACCTTACAGCACAAACTCAG	0.48																																						uc001kha.2		NA																	0				ovary(1)	1						c.(1291-1296)GTGCTG>GTTTTG		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)																																			SO:0001630	splice_region_variant	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508597_92508598GC>AA	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1293_1294delinsAA	10.37:g.92508597_92508598delinsAA						HTR7_uc001kgz.2_Silent_p.431_432VL>VL|HTR7_uc001khb.2_Silent_p.431_432VL>VL	p.431_432VL>VL	NM_019859	NP_062873	P34969	5HT7R_HUMAN			2	1536_1537	-			431_432			Cytoplasmic (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	DNP	ENST00000336152.3	37	c.1293_1294GC>TT	CCDS7408.1																																																																																				0.480	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	Silent	45	108	0	0	0	0	45	108				
PLCE1	51196	broad.mit.edu	37	10	95892095	95892095	+	Silent	SNP	C	C	G	rs373247117		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:95892095C>G	ENST00000371380.3	+	2	1606	c.1371C>G	c.(1369-1371)ctC>ctG	p.L457L	PLCE1_ENST00000371375.1_Silent_p.L149L|PLCE1_ENST00000260766.3_Silent_p.L457L|PLCE1_ENST00000371385.3_Silent_p.L149L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	457					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCGCCACCCTCCAAAGGACTT	0.517																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(1369-1371)CTC>CTG		phospholipase C, epsilon 1 isoform 1							147.0	149.0	148.0					10																	95892095		2107	4228	6335	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95892095C>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1371C>G	10.37:g.95892095C>G						PLCE1_uc010qnx.1_Silent_p.L457L|PLCE1_uc001kjm.2_Silent_p.L149L	p.L457L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			3	2005	+		Colorectal(252;0.0458)	457					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.1371C>G	CCDS41552.1																																																																																				0.517	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		65	64	0	0	0	0	65	64				
FAM204A	63877	broad.mit.edu	37	10	120094625	120094625	+	Splice_Site	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:120094625C>A	ENST00000369183.4	-	6	713		c.e6+1		FAM204A_ENST00000469758.1_Splice_Site|FAM204A_ENST00000369172.4_Splice_Site	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A											kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						AAAGATATTACCTTCTCAACT	0.363																																						uc001ldo.2		NA																	0					0						c.e6+1		hypothetical protein LOC63877							97.0	97.0	97.0					10																	120094625		2202	4300	6502	SO:0001630	splice_region_variant	63877							g.chr10:120094625C>A	AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.453+1G>T	10.37:g.120094625C>A						C10orf84_uc010qss.1_Splice_Site_p.K151_splice	p.K151_splice	NM_022063	NP_071346	Q9H8W3	F204A_HUMAN		all cancers(201;0.0244)	6	720	-		Colorectal(252;0.101)						D3DRC6|Q5T373|Q9H5V5	Splice_Site	SNP	ENST00000369183.4	37	c.453_splice	CCDS7605.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071338	0.36566	.	.	ENSG00000165669	ENST00000369183;ENST00000369172	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1753	0.81845	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM204A	120084615	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	4.348000	0.59379	2.604000	0.88044	0.563000	0.77884	.		0.363	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050596.2	NM_022063	Intron	6	51	1	0	0.00307968	0.00316752	6	51				
KNDC1	85442	broad.mit.edu	37	10	135020757	135020757	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:135020757C>T	ENST00000304613.3	+	20	3717	c.3696C>T	c.(3694-3696)ctC>ctT	p.L1232L	KNDC1_ENST00000368572.2_Silent_p.L1234L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1232					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCCTCGCTCATCTTCTACA	0.677																																						uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3694-3696)CTC>CTT		kinase non-catalytic C-lobe domain (KIND)							42.0	43.0	43.0					10																	135020757		2203	4300	6503	SO:0001819	synonymous_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135020757C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3696C>T	10.37:g.135020757C>T							p.L1232L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	20	3697	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1232					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.3696C>T	CCDS7674.1																																																																																				0.677	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		12	60	0	0	0	0	12	60				
OR51G1	79324	broad.mit.edu	37	11	4944942	4944942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:4944942C>T	ENST00000321961.2	-	1	695	c.628G>A	c.(628-630)Ggt>Agt	p.G210S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTCCACACCCACGGTGCAG	0.552																																						uc010qyr.1		NA																	0				ovary(1)|skin(1)	2						c.(628-630)GGT>AGT		olfactory receptor, family 51, subfamily G,							106.0	91.0	96.0					11																	4944942		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944942C>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.628G>A	11.37:g.4944942C>T	ENSP00000322546:p.Gly210Ser						p.G210S	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	628	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	210			Helical; Name=5; (Potential).		B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.628G>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596298	0.46318	.	.	ENSG00000176879	ENST00000321961	T	0.37235	1.21	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40064	U	0.001185	T	0.64349	0.2590	M	0.88570	2.965	0.31777	N	0.631374	D	0.89917	1.0	D	0.91635	0.999	T	0.73940	-0.3824	10	0.59425	D	0.04	.	13.3671	0.60692	0.0:1.0:0.0:0.0	.	210	Q8NGK1	O51G1_HUMAN	S	210	ENSP00000322546:G210S	ENSP00000322546:G210S	G	-	1	0	OR51G1	4901518	0.000000	0.05858	0.696000	0.30242	0.175000	0.22909	1.033000	0.30191	2.179000	0.69175	0.557000	0.71058	GGT		0.552	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		8	28	0	0	0	0	8	28				
ELP4	26610	broad.mit.edu	37	11	31625408	31625408	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:31625408T>G	ENST00000350638.5	+	5	642	c.607T>G	c.(607-609)Ttt>Gtt	p.F203V	ELP4_ENST00000379163.5_Missense_Mutation_p.F204V|ELP4_ENST00000395934.2_Missense_Mutation_p.F203V	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	203					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TTGGCATGGATTTTTTCTTCC	0.328																																						uc001mtb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(607-609)TTT>GTT		elongation protein 4 homolog							90.0	87.0	88.0					11																	31625408		1805	4065	5870	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31625408T>G	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.607T>G	11.37:g.31625408T>G	ENSP00000298937:p.Phe203Val					ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.F203V|ELP4_uc010rdz.1_Missense_Mutation_p.F204V	p.F203V	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			5	642	+	Lung SC(675;0.225)		203					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.607T>G	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615188	0.87359	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.39787	1.06;1.06;1.06	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.82923	2.615	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.64605	-0.6368	10	0.18276	T	0.48	-0.3073	16.0412	0.80683	0.0:0.0:0.0:1.0	.	204;203;203	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	V	203;204;203	ENSP00000298937:F203V;ENSP00000368461:F204V;ENSP00000379267:F203V	ENSP00000298937:F203V	F	+	1	0	ELP4	31581984	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.664000	0.74437	2.254000	0.74563	0.528000	0.53228	TTT		0.328	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		21	58	0	0	0	0	21	58				
OR8H2	390151	broad.mit.edu	37	11	55872567	55872567	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:55872567G>A	ENST00000313503.1	+	1	49	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G17I(1)|p.G17*(1)|p.G17R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATCCTTATGGGACTGACACT	0.423										HNSCC(53;0.14)																												uc010riy.1		NA																	3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(2)|cervix(1)	ovary(1)|skin(1)	2						c.(49-51)GGA>AGA		olfactory receptor, family 8, subfamily H,							233.0	222.0	226.0					11																	55872567		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872567G>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.49G>A	11.37:g.55872567G>A	ENSP00000323982:p.Gly17Arg	HNSCC(53;0.14)					p.G17R	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	49	+	Esophageal squamous(21;0.00693)		17			Extracellular (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.49G>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	13.30	2.195951	0.38806	.	.	ENSG00000181767	ENST00000313503	T	0.00659	5.94	3.74	3.74	0.42951	.	0.000000	0.49916	D	0.000133	T	0.06600	0.0169	M	0.93283	3.4	0.36035	D	0.839642	D	0.89917	1.0	D	0.69142	0.962	T	0.18903	-1.0322	10	0.87932	D	0	.	16.105	0.81213	0.0:0.0:1.0:0.0	.	17	Q8N162	OR8H2_HUMAN	R	17	ENSP00000323982:G17R	ENSP00000323982:G17R	G	+	1	0	OR8H2	55629143	1.000000	0.71417	0.050000	0.19076	0.027000	0.11550	4.458000	0.60095	2.032000	0.59987	0.440000	0.28878	GGA		0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		28	124	0	0	0	0	28	124				
SSRP1	6749	broad.mit.edu	37	11	57100270	57100270	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:57100270G>A	ENST00000278412.2	-	6	863	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	199					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GGAAGATGCAGATGGCATCTC	0.537																																					Colon(89;1000 1340 6884 23013 41819)	uc001njt.2		NA																	0				ovary(2)	2						c.(595-597)ATC>ATT		structure specific recognition protein 1							72.0	70.0	71.0					11																	57100270		2201	4296	6497	SO:0001819	synonymous_variant	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57100270G>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.597C>T	11.37:g.57100270G>A						SSRP1_uc010rjq.1_Silent_p.I199I	p.I199I	NM_003146	NP_003137	Q08945	SSRP1_HUMAN			6	864	-			199					Q5BJG8	Silent	SNP	ENST00000278412.2	37	c.597C>T	CCDS7952.1																																																																																				0.537	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		8	32	0	0	0	0	8	32				
TMEM109	79073	broad.mit.edu	37	11	60689394	60689394	+	Silent	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:60689394G>C	ENST00000227525.3	+	4	892	c.489G>C	c.(487-489)ctG>ctC	p.L163L	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000453848.2_5'Flank|TMEM109_ENST00000536171.1_Silent_p.L163L|TMEM132A_ENST00000005286.4_5'Flank	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	163					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TGTGGGGCCTGAAGCTTGTCA	0.652																																						uc001nqg.2		NA																	0					0						c.(487-489)CTG>CTC		transmembrane protein 109 precursor							121.0	118.0	119.0					11																	60689394		2203	4299	6502	SO:0001819	synonymous_variant	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60689394G>C		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.489G>C	11.37:g.60689394G>C						TMEM109_uc001nqh.2_Silent_p.L163L|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank	p.L163L	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN			4	867	+			163			Helical; (Potential).			Silent	SNP	ENST00000227525.3	37	c.489G>C	CCDS7996.1																																																																																				0.652	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		25	88	0	0	0	0	25	88				
STIP1	10963	broad.mit.edu	37	11	63965417	63965417	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:63965417A>G	ENST00000305218.4	+	8	1141	c.994A>G	c.(994-996)Acc>Gcc	p.T332A	STIP1_ENST00000358794.5_Missense_Mutation_p.T379A|STIP1_ENST00000538945.1_Missense_Mutation_p.T308A	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	332					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGAGCACCGAACCCCAGATGT	0.403																																						uc001nyk.1		NA																	0				ovary(2)|liver(1)	3						c.(994-996)ACC>GCC		stress-induced-phosphoprotein 1							128.0	139.0	135.0					11																	63965417		2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63965417A>G	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.994A>G	11.37:g.63965417A>G	ENSP00000305958:p.Thr332Ala					STIP1_uc010rnb.1_Missense_Mutation_p.T308A	p.T332A	NM_006819	NP_006810	P31948	STIP1_HUMAN			8	1141	+			332			TPR 6.		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.994A>G	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.781476	0.90282	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945	T;T;T	0.15834	2.41;2.65;2.39	5.16	5.16	0.70880	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049549	0.85682	N	0.000000	T	0.42291	0.1196	M	0.88512	2.96	0.80722	D	1	D;D	0.54601	0.96;0.967	P;D	0.63877	0.868;0.919	T	0.50338	-0.8840	10	0.10377	T	0.69	-24.8839	14.3312	0.66559	1.0:0.0:0.0:0.0	.	308;332	F5H0T1;P31948	.;STIP1_HUMAN	A	379;332;308	ENSP00000351646:T379A;ENSP00000305958:T332A;ENSP00000445957:T308A	ENSP00000305958:T332A	T	+	1	0	STIP1	63721993	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	8.574000	0.90763	2.095000	0.63458	0.529000	0.55759	ACC		0.403	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		5	155	0	0	0	0	5	155				
EHD1	10938	broad.mit.edu	37	11	64645866	64645866	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:64645866C>A	ENST00000320631.3	-	1	325	c.71G>T	c.(70-72)gGg>gTg	p.G24V	EHD1_ENST00000359393.2_Missense_Mutation_p.G24V	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	24					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTGCCGCAGCCCCTCAGCCAC	0.662																																						uc001obu.1		NA																	0					0						c.(70-72)GGG>GTG		EH-domain containing 1							46.0	44.0	44.0					11																	64645866		2199	4297	6496	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64645866C>A	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.71G>T	11.37:g.64645866C>A	ENSP00000320516:p.Gly24Val					EHD1_uc001obv.1_Missense_Mutation_p.G24V|EHD1_uc010rnq.1_Missense_Mutation_p.G38V	p.G24V	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN			1	326	-			24					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.71G>T	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	c	18.43	3.622819	0.66787	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000421303;ENST00000433803;ENST00000457202;ENST00000411683	T;T;T;T;T	0.46063	2.18;2.18;1.46;0.88;0.88	4.05	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	M	0.86343	2.81	0.80722	D	1	B;B	0.32731	0.382;0.382	B;B	0.32465	0.146;0.146	T	0.62695	-0.6800	10	0.87932	D	0	-49.1157	14.5217	0.67853	0.0:1.0:0.0:0.0	.	24;24	B2R5U3;Q9H4M9	.;EHD1_HUMAN	V	24;24;38;38;24;24	ENSP00000320516:G24V;ENSP00000352354:G24V;ENSP00000404944:G38V;ENSP00000399022:G24V;ENSP00000403830:G24V	ENSP00000320516:G24V	G	-	2	0	EHD1	64402442	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.776000	0.68924	2.193000	0.70182	0.486000	0.48141	GGG		0.662	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		16	19	1	0	2.89e-11	3.17e-11	16	19				
DPP3	10072	broad.mit.edu	37	11	66272197	66272197	+	Missense_Mutation	SNP	C	C	T	rs200243081		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:66272197C>T	ENST00000360510.2	+	17	2058	c.1993C>T	c.(1993-1995)Cgt>Tgt	p.R665C	DPP3_ENST00000531863.1_Missense_Mutation_p.R685C|DPP3_ENST00000532677.1_Missense_Mutation_p.R684C|DPP3_ENST00000530165.1_Missense_Mutation_p.R635C|DPP3_ENST00000541961.1_Missense_Mutation_p.R665C|DPP3_ENST00000453114.1_Missense_Mutation_p.R665C			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	665					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGTGCTGCTGCGTAAGGAATC	0.592																																						uc001oig.1		NA																	0				ovary(1)|skin(1)	2						c.(1993-1995)CGT>TGT		dipeptidyl peptidase III							124.0	107.0	113.0					11																	66272197		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272197C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1993C>T	11.37:g.66272197C>T	ENSP00000353701:p.Arg665Cys					DPP3_uc001oif.1_Missense_Mutation_p.R665C|DPP3_uc010rpe.1_Missense_Mutation_p.R654C|DPP3_uc001oih.1_Silent_p.C32C	p.R665C	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			17	2055	+			665					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1993C>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049435	0.75846	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	M	0.81497	2.545	0.58432	D	0.999999	D;P	0.89917	1.0;0.915	D;B	0.71870	0.975;0.339	T	0.54708	-0.8253	10	0.87932	D	0	.	11.9151	0.52761	0.1739:0.8261:0.0:0.0	.	684;665	G3V1D3;Q9NY33	.;DPP3_HUMAN	C	685;684;665;665;665;635;563;245	ENSP00000432782:R685C;ENSP00000435284:R684C;ENSP00000353701:R665C;ENSP00000389943:R665C;ENSP00000440502:R665C;ENSP00000436941:R635C	ENSP00000309957:R245C	R	+	1	0	DPP3	66028773	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.172000	0.42463	2.608000	0.88229	0.543000	0.68304	CGT		0.592	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			19	71	0	0	0	0	19	71				
CCND1	595	broad.mit.edu	37	11	69466006	69466006	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:69466006G>C	ENST00000227507.2	+	5	1071	c.844G>C	c.(844-846)Gac>Cac	p.D282H	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	282					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ggaggaggtggaCCTGGCTTG	0.711			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	uc001opa.2		NA		Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	IGH@|FSTL3		CLL|B-ALL|breast		0				ovary(1)|lung(1)	2						c.(844-846)GAC>CAC		cyclin D1	Arsenic trioxide(DB01169)						27.0	22.0	24.0					11																	69466006		2200	4294	6494	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69466006G>C	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.844G>C	11.37:g.69466006G>C	ENSP00000227507:p.Asp282His	Multiple Myeloma(6;0.086)					p.D282H	NM_053056	NP_444284	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		5	1053	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		282					Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.844G>C	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912243	0.92178	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	T	0.08896	3.04	5.45	5.45	0.79879	.	0.094899	0.64402	D	0.000001	T	0.18299	0.0439	L	0.36672	1.1	0.80722	D	1	P	0.45078	0.85	P	0.54706	0.759	T	0.00238	-1.1889	10	0.62326	D	0.03	.	19.2805	0.94051	0.0:0.0:1.0:0.0	.	282	P24385	CCND1_HUMAN	H	282;148	ENSP00000227507:D282H	ENSP00000227507:D282H	D	+	1	0	CCND1	69175187	1.000000	0.71417	0.893000	0.35052	0.974000	0.67602	7.137000	0.77295	2.554000	0.86153	0.561000	0.74099	GAC		0.711	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		8	4	0	0	0	0	8	4				
ZNF202	7753	broad.mit.edu	37	11	123601372	123601372	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:123601372C>T	ENST00000529691.1	-	2	444	c.225G>A	c.(223-225)ctG>ctA	p.L75L	ZNF202_ENST00000530393.1_Silent_p.L75L|ZNF202_ENST00000336139.4_Silent_p.L75L			O95125	ZN202_HUMAN	zinc finger protein 202	75	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCTCTGGTCTCAGCCACTGGT	0.562																																						uc001pzd.1		NA																	0				ovary(1)	1						c.(223-225)CTG>CTA		zinc finger protein 202							97.0	96.0	96.0					11																	123601372		2202	4299	6501	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601372C>T	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.225G>A	11.37:g.123601372C>T						ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Silent_p.L75L|ZNF202_uc001pzf.1_Silent_p.L75L	p.L75L	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	4	625	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	75			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.225G>A	CCDS8443.1																																																																																				0.562	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		19	48	0	0	0	0	19	48				
ST3GAL4	6484	broad.mit.edu	37	11	126276890	126276890	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:126276890G>A	ENST00000526727.1	+	3	528	c.154G>A	c.(154-156)Gag>Aag	p.E52K	ST3GAL4_ENST00000532243.1_Missense_Mutation_p.E51K|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.E48K|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.E48K|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.E47K|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.E52K|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.E52K|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.E52K|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.E41K|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.E52K			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	52					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GGGTGAGGCAGAGAGCAAGGC	0.542																																						uc001qds.2		NA																	0					0						c.(154-156)GAG>AAG		ST3 beta-galactoside alpha-2,3-sialyltransferase							79.0	80.0	79.0					11																	126276890		2201	4298	6499	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126276890G>A	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.154G>A	11.37:g.126276890G>A	ENSP00000436047:p.Glu52Lys					ST3GAL4_uc001qdt.2_Missense_Mutation_p.E48K|ST3GAL4_uc009zcc.2_5'UTR|ST3GAL4_uc009zcd.2_Missense_Mutation_p.E41K|ST3GAL4_uc001qdu.2_Missense_Mutation_p.E48K|ST3GAL4_uc001qdv.2_Missense_Mutation_p.E52K|ST3GAL4_uc009zce.2_Missense_Mutation_p.E48K|ST3GAL4_uc001qdw.2_Missense_Mutation_p.E41K|ST3GAL4_uc001qdx.1_Missense_Mutation_p.E41K|ST3GAL4_uc001qdy.2_5'UTR|ST3GAL4_uc001qdz.2_5'Flank	p.E52K	NM_006278	NP_006269	Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	4	373	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	52			Lumenal (Potential).		A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.154G>A	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151377	0.38021	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000526311;ENST00000528858;ENST00000534452;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457	T;T;T;T;T;T;T;T;T;T;T	0.42900	0.97;0.98;0.96;0.97;0.98;0.97;0.98;0.98;0.98;0.97;0.99	5.4	3.54	0.40534	.	0.663946	0.15584	N	0.254721	T	0.27098	0.0664	L	0.50333	1.59	0.09310	N	1	P;B;B	0.40970	0.734;0.062;0.062	B;B;B	0.32533	0.147;0.032;0.032	T	0.13899	-1.0492	10	0.07030	T	0.85	.	7.3412	0.26637	0.1506:0.1374:0.712:0.0	.	33;48;52	Q9HAA9;Q6IBE6;Q11206	.;.;SIA4C_HUMAN	K	48;52;52;48;52;52;52;52;52;52;41;51;47	ENSP00000227495:E48K;ENSP00000394354:E52K;ENSP00000348451:E52K;ENSP00000433989:E48K;ENSP00000433318:E52K;ENSP00000432424:E52K;ENSP00000376437:E52K;ENSP00000436047:E52K;ENSP00000399444:E41K;ENSP00000434349:E51K;ENSP00000434668:E47K	ENSP00000227495:E48K	E	+	1	0	ST3GAL4	125782100	0.894000	0.30519	0.028000	0.17463	0.940000	0.58332	2.667000	0.46808	0.657000	0.30906	0.561000	0.74099	GAG		0.542	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		15	49	0	0	0	0	15	49				
IGSF9B	22997	broad.mit.edu	37	11	133790784	133790784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:133790784G>C	ENST00000321016.8	-	18	3066	c.2836C>G	c.(2836-2838)Cgg>Ggg	p.R946G	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R946G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	946	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTGAAGCCGACCTTCCAGG	0.697																																						uc001qgx.3		NA																	0					0						c.(2836-2838)CGG>GGG		immunoglobulin superfamily, member 9B							18.0	22.0	21.0					11																	133790784		1858	4026	5884	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790784G>C	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2836C>G	11.37:g.133790784G>C	ENSP00000317980:p.Arg946Gly						p.R946G	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3067	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	946			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2836C>G		.	.	.	.	.	.	.	.	.	.	G	11.44	1.640410	0.29157	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.69806	-0.1;-0.43	4.2	3.28	0.37604	.	0.205935	0.24388	N	0.038954	T	0.49406	0.1555	L	0.27053	0.805	0.32996	D	0.525566	B	0.23377	0.084	B	0.21151	0.033	T	0.56914	-0.7900	10	0.87932	D	0	.	6.375	0.21503	0.0964:0.0:0.7228:0.1808	.	946	Q9UPX0	TUTLB_HUMAN	G	946;788	ENSP00000317980:R946G;ENSP00000436552:R788G	ENSP00000317980:R946G	R	-	1	2	IGSF9B	133295994	1.000000	0.71417	0.862000	0.33874	0.951000	0.60555	4.644000	0.61397	0.985000	0.38656	0.561000	0.74099	CGG		0.697	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		14	25	0	0	0	0	14	25				
C12orf4	57102	broad.mit.edu	37	12	4643433	4643433	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:4643433C>G	ENST00000261250.3	-	3	301	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.E72Q	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	72										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CTGAGGGATTCTTCTTCTATA	0.423																																						uc001qms.2		NA																	0					0						c.(214-216)GAA>CAA		hypothetical protein LOC57102							89.0	86.0	87.0					12																	4643433		2203	4300	6503	SO:0001583	missense	57102							g.chr12:4643433C>G	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.214G>C	12.37:g.4643433C>G	ENSP00000261250:p.Glu72Gln					C12orf4_uc001qmt.2_Missense_Mutation_p.E72Q	p.E72Q	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	3	302	-			72					D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	c.214G>C	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479353	0.63849	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000542080	.	.	.	5.57	5.57	0.84162	.	0.047549	0.85682	D	0.000000	T	0.63450	0.2512	M	0.79926	2.475	0.80722	D	1	P	0.51147	0.942	P	0.47299	0.543	T	0.63341	-0.6659	9	0.26408	T	0.33	.	12.1051	0.53807	0.0:0.9209:0.0:0.0791	.	72	Q9NQ89	CL004_HUMAN	Q	72;72;25	.	ENSP00000261250:E72Q	E	-	1	0	C12orf4	4513694	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.655000	0.46707	2.620000	0.88729	0.591000	0.81541	GAA		0.423	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		11	32	0	0	0	0	11	32				
DNM1L	10059	broad.mit.edu	37	12	32890803	32890803	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:32890803C>G	ENST00000549701.1	+	15	1675	c.1601C>G	c.(1600-1602)tCt>tGt	p.S534C	DNM1L_ENST00000452533.2_Intron|DNM1L_ENST00000381000.4_Missense_Mutation_p.S547C|DNM1L_ENST00000547312.1_Missense_Mutation_p.S534C|DNM1L_ENST00000358214.5_Intron|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000553257.1_Missense_Mutation_p.S547C|DNM1L_ENST00000414834.2_Missense_Mutation_p.S331C|DNM1L_ENST00000266481.6_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	534	B domain.|Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTTAGTCTTCTAAAGTTCCA	0.433																																						uc001rld.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1600-1602)TCT>TGT		dynamin 1-like isoform 1							66.0	65.0	65.0					12																	32890803		2203	4300	6503	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32890803C>G	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1601C>G	12.37:g.32890803C>G	ENSP00000450399:p.Ser534Cys					DNM1L_uc001rle.2_Intron|DNM1L_uc001rlf.2_Intron|DNM1L_uc010skh.1_Missense_Mutation_p.S600C|DNM1L_uc001rlg.2_Missense_Mutation_p.S600C|DNM1L_uc001rlh.2_Missense_Mutation_p.S587C|DNM1L_uc010ski.1_Missense_Mutation_p.S331C	p.S534C	NM_012062	NP_036192	O00429	DNM1L_HUMAN			15	1762	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		534			Interaction with GSK3B.|B domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.1601C>G	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844554	0.51164	.	.	ENSG00000087470	ENST00000411996;ENST00000553257;ENST00000549701;ENST00000547312;ENST00000414834;ENST00000381000	D;D;D;T;D	0.90563	-2.69;-2.68;-2.68;-1.33;-2.69	5.53	4.63	0.57726	.	0.804924	0.10259	N	0.696173	D	0.83640	0.5298	N	0.08118	0	0.80722	D	1	P;P;P;B	0.45078	0.511;0.85;0.846;0.214	B;B;B;B	0.41202	0.19;0.258;0.35;0.088	T	0.81404	-0.0948	10	0.59425	D	0.04	.	15.5052	0.75731	0.1465:0.8535:0.0:0.0	.	331;587;600;534	B4DGC9;D3DUW5;F8W8D1;O00429	.;.;.;DNM1L_HUMAN	C	600;547;534;534;331;547	ENSP00000449089:S547C;ENSP00000450399:S534C;ENSP00000448610:S534C;ENSP00000404160:S331C;ENSP00000370388:S547C	ENSP00000370388:S547C	S	+	2	0	DNM1L	32782070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.643000	0.54374	1.298000	0.44778	0.655000	0.94253	TCT		0.433	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		10	39	0	0	0	0	10	39				
KMT2D	8085	broad.mit.edu	37	12	49433388	49433388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:49433388G>A	ENST00000301067.7	-	32	8058	c.8059C>T	c.(8059-8061)Cga>Tga	p.R2687*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2687					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2417*(1)|p.R2687*(1)									AGCAGCTCTCGTAGTCGCTGG	0.572																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		2	Substitution - Nonsense(2)		haematopoietic_and_lymphoid_tissue(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(8059-8061)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia 2							20.0	22.0	21.0					12																	49433388		1991	4182	6173	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49433388G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8059C>T	12.37:g.49433388G>A	ENSP00000301067:p.Arg2687*	HNSCC(34;0.089)					p.R2687*	NM_003482	NP_003473	O14686	MLL2_HUMAN			32	8059	-			2687			Potential.|LXXLL motif 1.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.8059C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	49	15.948085	0.99850	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.6	5.6	0.85130	.	0.000000	0.34223	N	0.004145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7707	0.91890	0.0:0.0:1.0:0.0	.	.	.	.	X	2687	.	ENSP00000301067:R2687X	R	-	1	2	MLL2	47719655	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	3.443000	0.52907	2.805000	0.96524	0.655000	0.94253	CGA		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			10	15	0	0	0	0	10	15				
AQP6	363	broad.mit.edu	37	12	50367243	50367243	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:50367243C>G	ENST00000315520.5	+	1	624	c.287C>G	c.(286-288)tCt>tGt	p.S96C	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	96					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TCCCACATCTCTCTGCCCCGT	0.677																																						uc001rvr.1		NA																	0					0						c.(286-288)TCT>TGT		aquaporin 6							40.0	41.0	40.0					12																	50367243		2203	4299	6502	SO:0001583	missense	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50367243C>G	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.287C>G	12.37:g.50367243C>G	ENSP00000320247:p.Ser96Cys					AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA	p.S96C	NM_001652	NP_001643	Q13520	AQP6_HUMAN			1	624	+			96			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000315520.5	37	c.287C>G	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635269	0.87760	.	.	ENSG00000086159	ENST00000315520	D	0.94280	-3.39	4.93	4.93	0.64822	Aquaporin-like (2);	0.000000	0.53938	D	0.000056	D	0.98021	0.9348	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99560	1.0968	10	0.87932	D	0	0.7107	17.287	0.87145	0.0:1.0:0.0:0.0	.	96	Q13520	AQP6_HUMAN	C	96	ENSP00000320247:S96C	ENSP00000320247:S96C	S	+	2	0	AQP6	48653510	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.459000	0.83118	0.561000	0.74099	TCT		0.677	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		15	37	0	0	0	0	15	37				
KRT6A	3853	broad.mit.edu	37	12	52884660	52884660	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:52884660C>T	ENST00000330722.6	-	4	962	c.894G>A	c.(892-894)ctG>ctA	p.L298L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	298	Coil 1B.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACAAGGCTCTCAGGAAGTTGA	0.488																																						uc001sam.2		NA																	0				ovary(4)|skin(1)	5						c.(892-894)CTG>CTA		keratin 6A							165.0	147.0	153.0					12																	52884660		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52884660C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.894G>A	12.37:g.52884660C>T							p.L298L	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	1103	-			298			Coil 1B.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.894G>A	CCDS41786.1																																																																																				0.488	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		13	79	0	0	0	0	13	79				
OR6C4	341418	broad.mit.edu	37	12	55945429	55945429	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:55945429T>C	ENST00000394256.2	+	1	447	c.419T>C	c.(418-420)aTa>aCa	p.I140T	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGAGTCTGCATACAACTAGTG	0.468																																						uc010spp.1		NA																	0					0						c.(418-420)ATA>ACA		olfactory receptor, family 6, subfamily C,							122.0	124.0	123.0					12																	55945429		2203	4300	6503	SO:0001583	missense	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945429T>C	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.419T>C	12.37:g.55945429T>C	ENSP00000377799:p.Ile140Thr						p.I140T	NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN			1	419	+			140			Helical; Name=4; (Potential).		A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	c.419T>C	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.760911	0.00657	.	.	ENSG00000179626	ENST00000394256	T	0.38240	1.15	4.94	-0.362	0.12560	GPCR, rhodopsin-like superfamily (1);	0.642678	0.14384	N	0.322980	T	0.16685	0.0401	N	0.16602	0.42	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.26503	-1.0101	10	0.14252	T	0.57	.	5.0887	0.14696	0.1379:0.3668:0.0:0.4953	.	140	Q8NGE1	OR6C4_HUMAN	T	140	ENSP00000377799:I140T	ENSP00000377799:I140T	I	+	2	0	OR6C4	54231696	0.000000	0.05858	0.017000	0.16124	0.773000	0.43773	-3.608000	0.00416	0.130000	0.18549	0.529000	0.55759	ATA		0.468	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			13	107	0	0	0	0	13	107				
DPY19L2	283417	broad.mit.edu	37	12	64055144	64055144	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:64055144G>A	ENST00000324472.4	-	4	751	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	190					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AGATGGAAGCGTTTTATTGCA	0.333																																						uc001srp.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(568-570)CGC>TGC		dpy-19-like 2							69.0	71.0	70.0					12																	64055144		2202	4292	6494	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64055144G>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.568C>T	12.37:g.64055144G>A	ENSP00000315988:p.Arg190Cys					DPY19L2_uc009zqk.1_RNA	p.R190C	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	4	749	-			190					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.568C>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793648	0.31685	.	.	ENSG00000177990	ENST00000324472;ENST00000538147	T;T	0.68624	-0.34;-0.34	2.67	2.67	0.31697	.	0.000000	0.85682	U	0.000000	T	0.80221	0.4583	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80446	-0.1379	9	.	.	.	.	6.9073	0.24315	0.0:0.0:0.7252:0.2748	.	190	Q6NUT2	D19L2_HUMAN	C	190;47	ENSP00000315988:R190C;ENSP00000439567:R47C	.	R	-	1	0	DPY19L2	62341411	1.000000	0.71417	0.998000	0.56505	0.089000	0.18198	4.766000	0.62279	1.499000	0.48617	0.184000	0.17185	CGC		0.333	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		21	69	0	0	0	0	21	69				
ANKS1B	56899	broad.mit.edu	37	12	99640336	99640336	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:99640336C>A	ENST00000547776.2	-	13	2062	c.2063G>T	c.(2062-2064)gGc>gTc	p.G688V	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G688V|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G268V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	688						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.G688D(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGATCTTGTGCCAACAATGGT	0.433																																						uc001tge.1		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(2062-2064)GGC>GTC		cajalin 2 isoform a							116.0	107.0	110.0					12																	99640336		1878	4101	5979	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640336C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2063G>T	12.37:g.99640336C>A	ENSP00000449629:p.Gly688Val					ANKS1B_uc001tgf.1_Missense_Mutation_p.G268V|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.G654V	p.G688V	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	2480	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	688					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.2063G>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174101	0.57692	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.59772	1.03;0.24;1.03	5.21	5.21	0.72293	.	0.346455	0.28011	N	0.016941	T	0.66963	0.2843	L	0.48642	1.525	0.80722	D	1	P;D	0.64830	0.935;0.994	P;P	0.59825	0.653;0.864	T	0.64377	-0.6422	9	.	.	.	-6.9946	17.2978	0.87173	0.0:1.0:0.0:0.0	.	268;688	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	V	688;268;688;267	ENSP00000449629:G688V;ENSP00000448512:G268V;ENSP00000331381:G688V	.	G	-	2	0	ANKS1B	98164467	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.396000	0.59684	2.586000	0.87340	0.462000	0.41574	GGC		0.433	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		8	38	1	0	0.00307968	0.00316752	8	38				
BRAP	8315	broad.mit.edu	37	12	112097072	112097072	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:112097072C>T	ENST00000327551.6	-	8	1100	c.960G>A	c.(958-960)gaG>gaA	p.E320E	BRAP_ENST00000539060.1_Silent_p.E171E|BRAP_ENST00000419234.4_Silent_p.E350E			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GCTGCGTTTCCTCAAAGTGCT	0.448																																					Pancreas(146;846 1904 7830 25130 26065)	uc001tsn.3		NA																	0				lung(1)	1						c.(1048-1050)GAG>GAA		BRCA1 associated protein							167.0	136.0	146.0					12																	112097072		2203	4300	6503	SO:0001819	synonymous_variant	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112097072C>T	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.960G>A	12.37:g.112097072C>T						BRAP_uc010syh.1_Silent_p.E171E|BRAP_uc009zvv.2_Silent_p.E320E	p.E350E	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN			8	1244	-			350			UBP-type.		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	ENST00000327551.6	37	c.1050G>A																																																																																					0.448	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			9	69	0	0	0	0	9	69				
WDR66	144406	broad.mit.edu	37	12	122413157	122413157	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:122413157G>A	ENST00000288912.4	+	18	3633	c.2779G>A	c.(2779-2781)Gag>Aag	p.E927K		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	927							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAGTGTCCTGGAGGCAGCGGT	0.527																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NA																	0				ovary(1)|skin(1)	2						c.(2779-2781)GAG>AAG		WD repeat domain 66							91.0	96.0	94.0					12																	122413157		2151	4256	6407	SO:0001583	missense	144406						calcium ion binding	g.chr12:122413157G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2779G>A	12.37:g.122413157G>A	ENSP00000288912:p.Glu927Lys						p.E927K	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	18	2921	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		927			WD 9.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2779G>A	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179167	0.78564	.	.	ENSG00000158023	ENST00000288912	T	0.06371	3.31	5.47	4.58	0.56647	WD40 repeat-like-containing domain (1);	0.056069	0.64402	D	0.000001	T	0.16085	0.0387	M	0.72479	2.2	0.80722	D	1	P	0.48640	0.913	P	0.52823	0.71	T	0.00754	-1.1580	10	0.42905	T	0.14	.	11.9918	0.53180	0.1433:0.0:0.8567:0.0	.	927	Q8TBY9	WDR66_HUMAN	K	927	ENSP00000288912:E927K	ENSP00000288912:E927K	E	+	1	0	WDR66	120897540	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.919000	0.70005	1.308000	0.44962	0.563000	0.77884	GAG		0.527	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		11	39	0	0	0	0	11	39				
NCOR2	9612	broad.mit.edu	37	12	124812114	124812114	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:124812114T>C	ENST00000405201.1	-	45	7024	c.7024A>G	c.(7024-7026)Ata>Gta	p.I2342V	NCOR2_ENST00000397355.1_Missense_Mutation_p.I2333V|NCOR2_ENST00000404621.1_Missense_Mutation_p.I2332V|NCOR2_ENST00000404121.2_Missense_Mutation_p.I1903V|NCOR2_ENST00000429285.2_Missense_Mutation_p.I2332V|NCOR2_ENST00000356219.3_Missense_Mutation_p.I2349V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2353					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTTCTAATTATGGCCTCCAGC	0.547																																						uc010tay.1		NA																	0				skin(3)|ovary(1)	4						c.(7054-7056)ATA>GTA		nuclear receptor co-repressor 2 isoform 1							72.0	75.0	74.0					12																	124812114		1953	4154	6107	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124812114T>C	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.7024A>G	12.37:g.124812114T>C	ENSP00000384018:p.Ile2342Val					NCOR2_uc010taz.1_Missense_Mutation_p.I2336V|NCOR2_uc010tax.1_Intron	p.I2352V	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	47	7210	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2353			CORNR box of ID2.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.7054A>G	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380376	0.61845	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.38722	1.12;1.46;1.12;1.46;1.19;1.39	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.76574	2.34	0.58432	D	0.99999	P;D	0.65815	0.93;0.995	D;D	0.79108	0.919;0.992	T	0.69580	-0.5107	10	0.87932	D	0	-13.1302	15.0064	0.71516	0.0:0.0:0.0:1.0	.	2333;2342	C9J239;C9JFD3	.;.	V	2342;2332;2349;2333;2341;1903;434;2332	ENSP00000384018:I2342V;ENSP00000384202:I2332V;ENSP00000348551:I2349V;ENSP00000380513:I2333V;ENSP00000385618:I1903V;ENSP00000400281:I2332V	ENSP00000348551:I2349V	I	-	1	0	NCOR2	123378067	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.946000	0.87746	1.938000	0.56188	0.402000	0.26972	ATA		0.547	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		16	23	0	0	0	0	16	23				
ZNF10	7556	broad.mit.edu	37	12	133732548	133732548	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:133732548A>T	ENST00000248211.6	+	5	938	c.716A>T	c.(715-717)aAa>aTa	p.K239I	ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.K239I	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	239				Missing (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AAATCCTACAAATGCCCTGAT	0.373																																						uc009zzb.2		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(715-717)AAA>ATA		zinc finger protein 10							97.0	90.0	93.0					12																	133732548		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732548A>T	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.716A>T	12.37:g.133732548A>T	ENSP00000248211:p.Lys239Ile					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.K239I	p.K239I	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1163	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	239	Missing (in Ref. 1).				B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.716A>T	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	A	2.120	-0.401663	0.04865	.	.	ENSG00000256223	ENST00000248211;ENST00000426665	T;T	0.61274	0.12;0.12	4.22	1.72	0.24424	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.184635	0.26407	N	0.024553	T	0.40645	0.1125	L	0.45352	1.415	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.16897	-1.0387	9	.	.	.	.	3.2391	0.06774	0.6025:0.0:0.2263:0.1712	.	239	P21506	ZNF10_HUMAN	I	239	ENSP00000248211:K239I;ENSP00000393814:K239I	.	K	+	2	0	ZNF10	132242621	0.000000	0.05858	0.009000	0.14445	0.018000	0.09664	0.327000	0.19663	0.236000	0.21180	-0.408000	0.06270	AAA		0.373	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		27	48	0	0	0	0	27	48				
MAB21L1	4081	broad.mit.edu	37	13	36050182	36050182	+	Silent	SNP	G	G	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr13:36050182G>T	ENST00000379919.4	-	1	650	c.94C>A	c.(94-96)Cgg>Agg	p.R32R	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	32					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CAGACTTCCCGGATAGTTTTG	0.512																																						uc001uvc.2		NA																	0				ovary(2)	2						c.(94-96)CGG>AGG		mab-21-like protein 1							103.0	106.0	105.0					13																	36050182		2203	4300	6503	SO:0001819	synonymous_variant	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050182G>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.94C>A	13.37:g.36050182G>T						NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	p.R32R	NM_005584	NP_005575	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	651	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	32					Q6I9T5	Silent	SNP	ENST00000379919.4	37	c.94C>A	CCDS9353.1																																																																																				0.512	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		18	73	1	0	1.38e-19	1.55e-19	18	73				
SLITRK6	84189	broad.mit.edu	37	13	86369500	86369500	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr13:86369500C>A	ENST00000400286.2	-	2	1742	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	382					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCACTAGATCAGACTTCATT	0.378																																						uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1144-1146)GAT>TAT		slit and trk like 6 precursor							74.0	68.0	70.0					13																	86369500		1836	4085	5921	SO:0001583	missense	84189					integral to membrane		g.chr13:86369500C>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1144G>T	13.37:g.86369500C>A	ENSP00000383143:p.Asp382Tyr					SLITRK6_uc010afe.1_Intron	p.D382Y	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1603	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		382			Extracellular (Potential).|LRR 6.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1144G>T	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136735	0.56936	.	.	ENSG00000184564	ENST00000400286	T	0.02498	4.27	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01030	-1.1475	10	0.28530	T	0.3	-24.343	18.5388	0.91020	0.0:1.0:0.0:0.0	.	382	Q9H5Y7	SLIK6_HUMAN	Y	382	ENSP00000383143:D382Y	ENSP00000383143:D382Y	D	-	1	0	SLITRK6	85267501	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.818000	0.86416	2.724000	0.93272	0.585000	0.79938	GAT		0.378	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		32	46	1	0	1.07e-11	1.18e-11	32	46				
ATP11A	23250	broad.mit.edu	37	13	113439521	113439521	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr13:113439521G>C	ENST00000487903.1	+	2	200	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	ATP11A_ENST00000375630.2_Missense_Mutation_p.E38Q|ATP11A_ENST00000283558.8_Missense_Mutation_p.E38Q|ATP11A_ENST00000375645.3_Missense_Mutation_p.E38Q			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	38					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCCGGGCGCAGAGGCCTACAT	0.557											OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001vsi.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(112-114)GAG>CAG		ATPase, class VI, type 11A isoform a							154.0	144.0	147.0					13																	113439521		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113439521G>C	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.112G>C	13.37:g.113439521G>C	ENSP00000420387:p.Glu38Gln		OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1450	ATP11A_uc001vsj.3_Missense_Mutation_p.E38Q|ATP11A_uc001vsm.1_5'UTR	p.E38Q	NM_015205	NP_056020	P98196	AT11A_HUMAN			2	200	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	38			Cytoplasmic (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.112G>C	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488590|3.488590	0.64074|0.64074	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558|ENST00000418678	T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69691|0.69691	0.3139|0.3139	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	P;B|.	0.49783|.	0.928;0.088|.	P;B|.	0.50791|.	0.65;0.07|.	T|T	0.67956|0.67956	-0.5536|-0.5536	10|5	0.49607|.	T|.	0.09|.	.|.	17.0576|17.0576	0.86539|0.86539	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	38;38|.	E9PEJ6;P98196|.	.;AT11A_HUMAN|.	Q|H	38|12	ENSP00000420387:E38Q;ENSP00000364781:E38Q;ENSP00000364796:E38Q;ENSP00000283558:E38Q|.	ENSP00000283558:E38Q|.	E|Q	+|+	1|3	0|2	ATP11A|ATP11A	112487522|112487522	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.802000|0.802000	0.45316|0.45316	8.200000|8.200000	0.89733|0.89733	2.390000|2.390000	0.81377|0.81377	0.643000|0.643000	0.83706|0.83706	GAG|CAG		0.557	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		17	74	0	0	0	0	17	74				
ATP11A	23250	broad.mit.edu	37	13	113464990	113464990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr13:113464990C>A	ENST00000487903.1	+	5	479	c.391C>A	c.(391-393)Cat>Aat	p.H131N	ATP11A_ENST00000375630.2_Missense_Mutation_p.H131N|ATP11A_ENST00000283558.8_Missense_Mutation_p.H131N|ATP11A_ENST00000375645.3_Missense_Mutation_p.H131N			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	131					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GTGTCCTGTTCATTTCATTCA	0.463																																						uc001vsi.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(391-393)CAT>AAT		ATPase, class VI, type 11A isoform a							142.0	123.0	129.0					13																	113464990		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113464990C>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.391C>A	13.37:g.113464990C>A	ENSP00000420387:p.His131Asn					ATP11A_uc001vsj.3_Missense_Mutation_p.H131N|ATP11A_uc001vsm.1_Missense_Mutation_p.H7N	p.H131N	NM_015205	NP_056020	P98196	AT11A_HUMAN			5	479	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	131			Cytoplasmic (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.391C>A	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.114|9.114	1.007275|1.007275	0.19199|0.19199	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|D;D;D;D	.|0.90620	.|-2.7;-2.7;-2.7;-2.7	4.83|4.83	4.83|4.83	0.62350|0.62350	.|ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	.|0.105883	.|0.64402	.|D	.|0.000005	D|D	0.86426|0.86426	0.5930|0.5930	L|L	0.37897|0.37897	1.145|1.145	0.43399|0.43399	D|D	0.995521|0.995521	.|P;B;B	.|0.37276	.|0.589;0.002;0.002	.|B;B;B	.|0.36766	.|0.232;0.003;0.002	D|D	0.85606|0.85606	0.1255|0.1255	5|10	.|0.32370	.|T	.|0.25	.|.	17.0821|17.0821	0.86601|0.86601	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|131;131;131	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	L|N	105|131	.|ENSP00000420387:H131N;ENSP00000364781:H131N;ENSP00000364796:H131N;ENSP00000283558:H131N	.|ENSP00000283558:H131N	F|H	+|+	3|1	2|0	ATP11A|ATP11A	112512991|112512991	0.987000|0.987000	0.35691|0.35691	0.212000|0.212000	0.23672|0.23672	0.555000|0.555000	0.35460|0.35460	2.343000|2.343000	0.44001|0.44001	2.385000|2.385000	0.81259|0.81259	0.563000|0.563000	0.77884|0.77884	TTC|CAT		0.463	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		18	124	1	0	8.01e-06	8.52e-06	18	124				
MDGA2	161357	broad.mit.edu	37	14	47426600	47426600	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr14:47426600C>T	ENST00000399232.2	-	9	2223	c.1859G>A	c.(1858-1860)gGg>gAg	p.G620E	MDGA2_ENST00000357362.3_Missense_Mutation_p.G391E|MDGA2_ENST00000439988.3_Missense_Mutation_p.G689E|MDGA2_ENST00000426342.1_Missense_Mutation_p.G391E	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	620	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCTGCATCTCCCAGCTCCAGC	0.358																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1858-1860)GGG>GAG		MAM domain containing 1 isoform 1							74.0	74.0	74.0					14																	47426600		1846	4089	5935	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426600C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1859G>A	14.37:g.47426600C>T	ENSP00000382178:p.Gly620Glu					MDGA2_uc001wwi.3_Missense_Mutation_p.G391E|MDGA2_uc010ani.2_Missense_Mutation_p.G180E	p.G620E	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			9	2055	-			620			Ig-like 6.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1859G>A		.	.	.	.	.	.	.	.	.	.	C	23.1	4.375973	0.82682	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.3	5.3	0.74995	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	U	0.000072	T	0.57989	0.2091	L	0.57536	1.79	0.80722	D	1	P;P	0.37500	0.597;0.51	B;B	0.43155	0.287;0.41	T	0.60806	-0.7190	10	0.54805	T	0.06	.	17.5214	0.87787	0.0:1.0:0.0:0.0	.	391;620	F6W3S7;Q7Z553	.;MDGA2_HUMAN	E	620;391;689;391	ENSP00000400011:G620E;ENSP00000405456:G391E;ENSP00000382178:G689E;ENSP00000349925:G391E	ENSP00000349925:G391E	G	-	2	0	MDGA2	46496350	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	5.488000	0.66869	2.490000	0.84030	0.650000	0.86243	GGG		0.358	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		17	35	0	0	0	0	17	35				
NID2	22795	broad.mit.edu	37	14	52535538	52535538	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr14:52535538C>A	ENST00000216286.5	-	1	174	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	NID2_ENST00000541773.1_Splice_Site_p.V6L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	59					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCCAGCTTCACCACGGCTGAG	0.637																																						uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(175-177)GTG>TTG		nidogen 2 precursor							103.0	88.0	93.0					14																	52535538		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52535538C>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.175G>T	14.37:g.52535538C>A	ENSP00000216286:p.Val59Leu					NID2_uc010tqs.1_Missense_Mutation_p.V59L|NID2_uc010tqt.1_Missense_Mutation_p.V59L|NID2_uc001wzp.2_Missense_Mutation_p.V59L	p.V59L	NM_007361	NP_031387	Q14112	NID2_HUMAN			1	409	-	Breast(41;0.0639)|all_epithelial(31;0.123)		59					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.175G>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493541	0.44352	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.18016	2.24;2.24	4.81	3.89	0.44902	.	0.136660	0.49916	N	0.000127	T	0.11410	0.0278	N	0.26092	0.79	0.29444	N	0.85892	B;B;B	0.19935	0.04;0.007;0.001	B;B;B	0.16722	0.016;0.006;0.003	T	0.18650	-1.0330	10	0.12103	T	0.63	.	12.5923	0.56449	0.0:0.8311:0.1689:0.0	.	6;61;59	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	L	59;59;6;61	ENSP00000216286:V59L;ENSP00000443730:V6L	ENSP00000216286:V59L	V	-	1	0	NID2	51605288	0.866000	0.29940	0.878000	0.34440	0.752000	0.42762	1.418000	0.34782	0.986000	0.38683	0.455000	0.32223	GTG		0.637	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			22	37	1	0	2.49e-11	2.74e-11	22	37				
MLH3	27030	broad.mit.edu	37	14	75485569	75485569	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr14:75485569G>T	ENST00000556740.1	-	11	4240	c.4205C>A	c.(4204-4206)cCg>cAg	p.P1402Q	RNU6-689P_ENST00000384197.1_RNA|MLH3_ENST00000238662.7_Missense_Mutation_p.P1378Q|MLH3_ENST00000355774.2_Missense_Mutation_p.P1402Q|MLH3_ENST00000380968.2_Missense_Mutation_p.P340Q|MLH3_ENST00000556257.1_Missense_Mutation_p.P1224Q			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1402					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.P1378R(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTCAGCTAACGGCAGCATAGA	0.468								Mismatch excision repair (MMR)																														uc001xrd.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(4204-4206)CCG>CAG	MMR	mutL homolog 3 isoform 1							122.0	111.0	115.0					14																	75485569		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75485569G>T	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.4205C>A	14.37:g.75485569G>T	ENSP00000452316:p.Pro1402Gln					MLH3_uc001xre.1_Missense_Mutation_p.P1378Q	p.P1402Q	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	12	4421	-			1402					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.4205C>A	CCDS32123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.063761|4.063761	0.76187|0.76187	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740|ENST00000553713	T;T;T;T;T|.	0.76578|.	-1.03;-1.03;-1.03;-1.03;-1.03|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76399|0.76399	0.3982|0.3982	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.74870|0.74870	-0.3517|-0.3517	10|5	0.62326|.	D|.	0.03|.	-9.1121|-9.1121	19.5283|19.5283	0.95215|0.95215	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1378;1402|.	Q9UHC1-2;Q9UHC1|.	.;MLH3_HUMAN|.	Q|S	1402;340;1378;1224;1402|426	ENSP00000348020:P1402Q;ENSP00000370355:P340Q;ENSP00000238662:P1378Q;ENSP00000451540:P1224Q;ENSP00000452316:P1402Q|.	ENSP00000238662:P1378Q|.	P|R	-|-	2|1	0|0	MLH3|MLH3	74555322|74555322	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.408000|0.408000	0.30992|0.30992	9.186000|9.186000	0.94906|0.94906	2.596000|2.596000	0.87737|0.87737	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.468	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		25	38	1	0	6.13e-19	6.89e-19	25	38				
AHNAK2	113146	broad.mit.edu	37	14	105412107	105412107	+	Silent	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr14:105412107G>C	ENST00000333244.5	-	7	9800	c.9681C>G	c.(9679-9681)ccC>ccG	p.P3227P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3227						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGCAACTTGGGCAGGTGCC	0.617																																						uc010axc.1		NA																	0				ovary(1)	1						c.(9679-9681)CCC>CCG		AHNAK nucleoprotein 2							121.0	84.0	95.0					14																	105412107		1888	4062	5950	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412107G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9681C>G	14.37:g.105412107G>C						AHNAK2_uc001ypx.2_Silent_p.P3127P	p.P3227P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9801	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3227					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9681C>G	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		34	389	0	0	0	0	34	389				
SLC12A6	9990	broad.mit.edu	37	15	34538068	34538068	+	Splice_Site	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:34538068C>A	ENST00000354181.3	-	14	2142	c.1650G>T	c.(1648-1650)aaG>aaT	p.K550N	SLC12A6_ENST00000558667.1_Splice_Site_p.K550N|SLC12A6_ENST00000560611.1_Splice_Site_p.K550N|SLC12A6_ENST00000451844.2_Splice_Site_p.K362N|SLC12A6_ENST00000290209.5_Splice_Site_p.K499N|SLC12A6_ENST00000397707.2_Splice_Site_p.K535N|SLC12A6_ENST00000558589.1_Splice_Site_p.K541N|SLC12A6_ENST00000397702.2_Splice_Site_p.K491N|SLC12A6_ENST00000458406.2_Splice_Site_p.K491N|SLC12A6_ENST00000560164.1_Splice_Site_p.K362N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	550					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CATCACCGAACCTGGGAAAGA	0.413																																						uc001zhw.2		NA																	0				central_nervous_system(5)|ovary(1)|skin(1)	7						c.(1648-1650)AAG>AAT		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						42.0	42.0	42.0					15																	34538068		2201	4298	6499	SO:0001630	splice_region_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34538068C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1650-1G>T	15.37:g.34538068C>A						SLC12A6_uc001zhv.2_Missense_Mutation_p.K499N|SLC12A6_uc001zhx.2_Missense_Mutation_p.K535N|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.K491N|SLC12A6_uc001zib.2_Missense_Mutation_p.K541N|SLC12A6_uc001zic.2_Missense_Mutation_p.K550N|SLC12A6_uc010bau.2_Missense_Mutation_p.K550N|SLC12A6_uc001zid.2_Missense_Mutation_p.K491N|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.K362N	p.K550N	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	13	1814	-		all_lung(180;2.78e-08)	550			Cytoplasmic (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.1650G>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429592	0.62844	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98	4.85	1.92	0.25849	Amino acid permease domain (1);	0.058852	0.64402	N	0.000004	D	0.97087	0.9048	L	0.43152	1.355	0.80722	D	1	P;B;D;P	0.52996	0.859;0.379;0.957;0.549	P;B;P;B	0.54664	0.584;0.349;0.758;0.369	D	0.95455	0.8538	10	0.87932	D	0	.	8.9131	0.35565	0.0:0.7541:0.0:0.2459	.	535;550;499;362	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	N	499;535;541;491;491;362	ENSP00000290209:K499N;ENSP00000380819:K535N;ENSP00000380814:K491N;ENSP00000387725:K491N;ENSP00000390199:K362N	ENSP00000290209:K499N	K	-	3	2	SLC12A6	32325360	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.865000	0.48412	0.334000	0.23590	0.591000	0.81541	AAG		0.413	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	Missense_Mutation	7	13	1	0	0.00198382	0.00204727	7	13				
FBN1	2200	broad.mit.edu	37	15	48892392	48892392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:48892392C>T	ENST00000316623.5	-	5	841	c.386G>A	c.(385-387)tGc>tAc	p.C129Y		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	129	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		C -> Y (in MFS; severe neonatal). {ECO:0000269|PubMed:7611299}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATCGTCACTGCAGCTACCTCC	0.378																																						uc001zwx.1		NA																	0				ovary(2)|large_intestine(1)	3	GRCh37	CM950436	FBN1	M		c.(385-387)TGC>TAC		fibrillin 1 precursor							194.0	158.0	170.0					15																	48892392		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48892392C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.386G>A	15.37:g.48892392C>T	ENSP00000325527:p.Cys129Tyr						p.C129Y	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	5	714	-		all_lung(180;0.00279)	129		C -> Y (in MFS; severe neonatal).	EGF-like 2.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.386G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958249	0.92726	.	.	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	D;D	0.99298	-2.05;-5.71	6.17	6.17	0.99709	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	M	0.92026	3.265	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.98516	1.0621	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	129	P35555	FBN1_HUMAN	Y	129	ENSP00000325527:C129Y;ENSP00000440294:C129Y	ENSP00000325527:C129Y	C	-	2	0	FBN1	46679684	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.270000	0.78493	2.941000	0.99782	0.655000	0.94253	TGC		0.378	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			52	21	0	0	0	0	52	21				
FAM214A	56204	broad.mit.edu	37	15	52903845	52903845	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:52903845C>T	ENST00000261844.7	-	4	483	c.331G>A	c.(331-333)Gat>Aat	p.D111N	FAM214A_ENST00000546305.2_Missense_Mutation_p.D118N	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	111																	TCATTTAGATCAATTCCCTCT	0.428																																						uc002acg.3		NA																	0					0						c.(331-333)GAT>AAT		hypothetical protein LOC56204							114.0	112.0	112.0					15																	52903845		1951	4147	6098	SO:0001583	missense	56204							g.chr15:52903845C>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.331G>A	15.37:g.52903845C>T	ENSP00000261844:p.Asp111Asn					KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.D23N|KIAA1370_uc010ugf.1_Missense_Mutation_p.D118N	p.D111N	NM_019600	NP_062546	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	4	484	-			111					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.331G>A	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465221	0.63513	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.32272	1.46;1.46	6.16	5.23	0.72850	.	0.294554	0.41605	D	0.000841	T	0.29061	0.0722	L	0.36672	1.1	0.41984	D	0.990812	B;B	0.24368	0.102;0.061	B;B	0.24541	0.054;0.024	T	0.03608	-1.1020	10	0.48119	T	0.1	.	17.435	0.87549	0.0:0.8755:0.1245:0.0	.	118;111	F5H8G0;Q32MH5	.;K1370_HUMAN	N	111;111;110;118	ENSP00000261844:D111N;ENSP00000443598:D118N	ENSP00000261844:D111N	D	-	1	0	KIAA1370	50691137	0.990000	0.36364	0.442000	0.26870	0.998000	0.95712	3.378000	0.52432	1.583000	0.49898	0.650000	0.86243	GAT		0.428	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		14	39	0	0	0	0	14	39				
UNC13C	440279	broad.mit.edu	37	15	54914565	54914565	+	Silent	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:54914565T>C	ENST00000260323.11	+	30	6147	c.6147T>C	c.(6145-6147)caT>caC	p.H2049H	UNC13C_ENST00000545554.1_Silent_p.H2049H|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000537900.1_Silent_p.H2047H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2049	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATCTGTTCATGTGGACATCA	0.428																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(6145-6147)CAT>CAC		unc-13 homolog C							118.0	119.0	119.0					15																	54914565		1968	4169	6137	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54914565T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6147T>C	15.37:g.54914565T>C						UNC13C_uc002acm.2_5'UTR	p.H2049H	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	29	6147	+			2049			C2 2.		Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.6147T>C	CCDS45264.1																																																																																				0.428	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		61	18	0	0	0	0	61	18				
CILP	8483	broad.mit.edu	37	15	65490839	65490839	+	Silent	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:65490839T>C	ENST00000261883.4	-	9	1951	c.1785A>G	c.(1783-1785)gaA>gaG	p.E595E		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	595					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCATGGGGTCTTCACCAACCA	0.522																																						uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(1783-1785)GAA>GAG		cartilage intermediate layer protein							75.0	73.0	74.0					15																	65490839		2202	4299	6501	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65490839T>C	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1785A>G	15.37:g.65490839T>C							p.E595E	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	1966	-			595					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.1785A>G	CCDS10203.1																																																																																				0.522	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		29	57	0	0	0	0	29	57				
CLK3	1198	broad.mit.edu	37	15	74922109	74922109	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:74922109T>G	ENST00000395066.3	+	13	2263	c.1802T>G	c.(1801-1803)tTa>tGa	p.L601*	CLK3_ENST00000345005.4_Nonsense_Mutation_p.L453*|CLK3_ENST00000352989.5_Nonsense_Mutation_p.L430*|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGAGGATGTTAGAATTTGAC	0.607																																					Ovarian(133;694 1754 28950 29027 31859)	uc010uln.1		NA																	0				stomach(2)	2						c.(1801-1803)TTA>TGA		CDC-like kinase 3 isoform a							74.0	55.0	62.0					15																	74922109		2197	4296	6493	SO:0001587	stop_gained	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74922109T>G	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1802T>G	15.37:g.74922109T>G	ENSP00000378505:p.Leu601*					CLK3_uc002ayg.3_Nonsense_Mutation_p.L453*|CLK3_uc002ayh.3_Nonsense_Mutation_p.L232*|CLK3_uc002ayj.3_Nonsense_Mutation_p.L430*|CLK3_uc002ayk.3_Nonsense_Mutation_p.L380*|CLK3_uc002ayl.3_Nonsense_Mutation_p.L286*	p.L601*	NM_001130028	NP_001123500	P49761	CLK3_HUMAN			13	2263	+			601			Protein kinase.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Nonsense_Mutation	SNP	ENST00000395066.3	37	c.1802T>G	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	T	32	5.172980	0.94807	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	.	.	.	5.23	5.23	0.72850	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7694	0.69665	0.0:0.0:0.0:1.0	.	.	.	.	X	453;453;601;430	.	ENSP00000344112:L453X	L	+	2	0	CLK3	72709162	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.837000	0.86796	1.989000	0.58080	0.459000	0.35465	TTA		0.607	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			22	5	0	0	0	0	22	5				
NR2F2	7026	broad.mit.edu	37	15	96875642	96875642	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:96875642T>G	ENST00000394166.3	+	1	1697	c.308T>G	c.(307-309)tTc>tGc	p.F103C	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000394171.2_5'Flank|NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	103					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AAGAGCTTCTTCAAGCGCAGC	0.622																																						uc010uri.1		NA																	0				ovary(2)|breast(1)	3						c.(307-309)TTC>TGC		nuclear receptor subfamily 2, group F, member 2							68.0	55.0	59.0					15																	96875642		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96875642T>G	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.308T>G	15.37:g.96875642T>G	ENSP00000377721:p.Phe103Cys					NR2F2_uc002btp.2_Intron|NR2F2_uc010urj.1_5'Flank|MIR1469_hsa-mir-1469|MI0007074_5'Flank|NR2F2_uc010urk.1_5'Flank	p.F103C	NM_021005	NP_066285	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1532	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		103			Nuclear receptor.		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.308T>G	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.291272	0.80914	.	.	ENSG00000185551	ENST00000394166	D	0.99032	-5.35	4.61	4.61	0.57282	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.226332	0.35179	N	0.003386	D	0.99638	0.9867	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97289	0.9923	10	0.87932	D	0	.	12.8472	0.57837	0.0:0.0:0.0:1.0	.	103	P24468	COT2_HUMAN	C	103	ENSP00000377721:F103C	ENSP00000377721:F103C	F	+	2	0	NR2F2	94676646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.254000	0.72460	1.705000	0.51264	0.379000	0.24179	TTC		0.622	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			6	11	0	0	0	0	6	11				
ALDH1A3	220	broad.mit.edu	37	15	101445832	101445832	+	Silent	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr15:101445832C>G	ENST00000329841.5	+	10	1705	c.1173C>G	c.(1171-1173)ctC>ctG	p.L391L	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Silent_p.L284L	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	391					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ACAAGGGGCTCTTCATCAAAC	0.537																																						uc002bwn.3		NA																	0				central_nervous_system(2)|lung(1)|pancreas(1)	4						c.(1171-1173)CTC>CTG		aldehyde dehydrogenase 1A3	NADH(DB00157)|Vitamin A(DB00162)						65.0	64.0	64.0					15																	101445832		2203	4300	6503	SO:0001819	synonymous_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101445832C>G	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1173C>G	15.37:g.101445832C>G						ALDH1A3_uc010bpb.2_Silent_p.L284L|uc002bwo.1_Intron	p.L391L	NM_000693	NP_000684	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		10	1277	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		391					Q6NT64	Silent	SNP	ENST00000329841.5	37	c.1173C>G	CCDS10389.1																																																																																				0.537	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			4	26	0	0	0	0	4	26				
E4F1	1877	broad.mit.edu	37	16	2273707	2273707	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:2273707G>A	ENST00000301727.4	+	1	141	c.93G>A	c.(91-93)gcG>gcA	p.A31A	E4F1_ENST00000564139.1_Silent_p.A31A|E4F1_ENST00000565090.1_Silent_p.A31A	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	31					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GTGCAGTTGCGGCGGTGGCGG	0.751																																						uc002cpm.2		NA																	0				ovary(1)	1						c.(91-93)GCG>GCA		p120E4F							9.0	13.0	12.0					16																	2273707		2141	4223	6364	SO:0001819	synonymous_variant	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2273707G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.93G>A	16.37:g.2273707G>A						E4F1_uc010bsi.2_Silent_p.A31A|E4F1_uc010bsj.2_Silent_p.A31A	p.A31A	NM_004424	NP_004415	Q66K89	E4F1_HUMAN			1	141	+			31					A8K2R4|O00146	Silent	SNP	ENST00000301727.4	37	c.93G>A	CCDS32370.1																																																																																				0.751	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		7	2	0	0	0	0	7	2				
ATXN2L	11273	broad.mit.edu	37	16	28844640	28844640	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:28844640C>T	ENST00000336783.4	+	14	2087	c.1920C>T	c.(1918-1920)atC>atT	p.I640I	ATXN2L_ENST00000340394.8_Silent_p.I640I|ATXN2L_ENST00000325215.6_Silent_p.I640I|ATXN2L_ENST00000382686.4_Silent_p.I640I|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000395547.2_Silent_p.I640I|ATXN2L_ENST00000564304.1_Silent_p.I646I|ATXN2L_ENST00000570200.1_Silent_p.I640I	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	640					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGGCCTCATCAAGGGAGAAG	0.622																																						uc002drc.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1918-1920)ATC>ATT		ataxin 2 related protein isoform A							41.0	44.0	43.0					16																	28844640		2197	4300	6497	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28844640C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1920C>T	16.37:g.28844640C>T						uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.I616I|ATXN2L_uc002drb.2_Silent_p.I640I|ATXN2L_uc002dqy.2_Silent_p.I640I|ATXN2L_uc002dra.2_Silent_p.I640I|ATXN2L_uc002dqz.2_Silent_p.I640I|ATXN2L_uc010vdb.1_Silent_p.I646I|ATXN2L_uc002dre.2_Silent_p.I640I|ATXN2L_uc002drf.2_Silent_p.I49I|ATXN2L_uc002drg.2_5'Flank	p.I640I	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			14	2088	+			640					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.1920C>T	CCDS10641.1																																																																																				0.622	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		18	46	0	0	0	0	18	46				
TBX6	6911	broad.mit.edu	37	16	30100461	30100461	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:30100461C>G	ENST00000395224.2	-	4	483	c.424G>C	c.(424-426)Gat>Cat	p.D142H	TBX6_ENST00000553607.1_Missense_Mutation_p.D142H|TBX6_ENST00000279386.2_Missense_Mutation_p.D142H	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	142					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GGAATCACATCCAGAAGAAAC	0.662																																						uc010veh.1		NA																	0				ovary(1)|pancreas(1)	2						c.(424-426)GAT>CAT		T-box 6							45.0	52.0	49.0					16																	30100461		2197	4299	6496	SO:0001583	missense	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100461C>G	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.424G>C	16.37:g.30100461C>G	ENSP00000378650:p.Asp142His					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.D142H	p.D142H	NM_004608	NP_004599	O95947	TBX6_HUMAN			4	484	-			142			T-box.		Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	c.424G>C	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143886	0.77888	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.90133	-2.62;-2.62;-2.62	6.04	6.04	0.98038	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93595	0.7955	L	0.41124	1.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93726	0.7037	10	0.87932	D	0	.	19.3507	0.94384	0.0:1.0:0.0:0.0	.	142;142	O95947;Q9HA44	TBX6_HUMAN;.	H	142	ENSP00000378650:D142H;ENSP00000279386:D142H;ENSP00000461223:D142H	ENSP00000279386:D142H	D	-	1	0	TBX6	30007962	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	7.691000	0.84191	2.873000	0.98535	0.561000	0.74099	GAT		0.662	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		17	72	0	0	0	0	17	72				
CNGB1	1258	broad.mit.edu	37	16	57973358	57973358	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:57973358C>T	ENST00000251102.8	-	16	1408	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	CNGB1_ENST00000564448.1_Missense_Mutation_p.E444K|CNGB1_ENST00000564654.1_5'UTR	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	450					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCGGCCTCAGCCTCAGGc	0.617																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	0				breast(3)|pancreas(1)	4						c.(1348-1350)GAG>AAG		cyclic nucleotide gated channel beta 1 isoform							69.0	83.0	78.0					16																	57973358		2103	4220	6323	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57973358C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1348G>A	16.37:g.57973358C>T	ENSP00000251102:p.Glu450Lys					CNGB1_uc010cdh.2_Missense_Mutation_p.E444K	p.E450K	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			16	1413	-			450			Cytoplasmic (Potential).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.1348G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	5.250	0.231652	0.09969	.	.	ENSG00000070729	ENST00000251102	T	0.30448	1.53	0.158	0.158	0.14942	.	1.545530	0.04181	N	0.326569	T	0.18841	0.0452	L	0.44542	1.39	0.09310	N	0.999997	P	0.37233	0.588	B	0.21708	0.036	T	0.14699	-1.0463	9	0.10377	T	0.69	.	.	.	.	.	450	Q14028	CNGB1_HUMAN	K	450	ENSP00000251102:E450K	ENSP00000251102:E450K	E	-	1	0	CNGB1	56530859	0.253000	0.23982	0.016000	0.15963	0.028000	0.11728	0.647000	0.24812	0.202000	0.20498	0.205000	0.17691	GAG		0.617	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		7	26	0	0	0	0	7	26				
CENPN	55839	broad.mit.edu	37	16	81061821	81061821	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:81061821G>A	ENST00000305850.5	+	10	1646	c.856G>A	c.(856-858)Gag>Aag	p.E286K	RP11-303E16.2_ENST00000566639.1_RNA|RP11-303E16.3_ENST00000561808.1_RNA|CENPN_ENST00000439957.3_Missense_Mutation_p.E266K|RP11-303E16.3_ENST00000566390.1_RNA|CENPN_ENST00000393335.3_Missense_Mutation_p.E286K|CENPN_ENST00000428963.2_Missense_Mutation_p.E252K	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	286					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						CATCTTGGCTGAGAGGGAAGA	0.403																																						uc002ffx.2		NA																	0					0						c.(856-858)GAG>AAG		centromere protein N isoform 2							87.0	79.0	81.0					16																	81061821		1858	4095	5953	SO:0001583	missense	55839				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr16:81061821G>A	AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.856G>A	16.37:g.81061821G>A	ENSP00000305608:p.Glu286Lys					CENPN_uc010vnl.1_Missense_Mutation_p.E252K|CENPN_uc010vnm.1_Missense_Mutation_p.E266K|CENPN_uc002ffy.3_Missense_Mutation_p.E286K	p.E286K	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN			10	1646	+			286					A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	ENST00000305850.5	37	c.856G>A	CCDS42200.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709416	0.48517	.	.	ENSG00000166451	ENST00000305850;ENST00000439957;ENST00000393335;ENST00000428963	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	6.17	6.17	0.99709	.	0.487974	0.24001	N	0.042472	T	0.26268	0.0641	L	0.59436	1.845	0.28599	N	0.909274	B;B;B;B	0.22080	0.004;0.036;0.064;0.005	B;B;B;B	0.23275	0.021;0.029;0.045;0.031	T	0.06162	-1.0842	10	0.38643	T	0.18	-5.2565	17.3752	0.87390	0.0:0.1881:0.8119:0.0	.	266;252;286;286	E7ETS3;E7ES30;A8MZE6;Q96H22	.;.;.;CENPN_HUMAN	K	286;266;286;252	ENSP00000305608:E286K;ENSP00000395235:E266K;ENSP00000377007:E286K;ENSP00000393991:E252K	ENSP00000305608:E286K	E	+	1	0	CENPN	79619322	0.877000	0.30153	0.962000	0.40283	0.644000	0.38419	2.057000	0.41365	2.941000	0.99782	0.655000	0.94253	GAG		0.403	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1	NM_018455		11	49	0	0	0	0	11	49				
PKD1L2	114780	broad.mit.edu	37	16	81183305	81183305	+	RNA	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr16:81183305C>G	ENST00000525539.1	-	0	4742				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAAGTCCATCTTTTGCTCAG	0.592																																						uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4741-4743)AAG>AAC		polycystin 1-like 2 isoform a							43.0	44.0	44.0					16																	81183305		2002	4183	6185			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183305C>G	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183305C>G						PKD1L2_uc002fgg.1_RNA	p.K1581N	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			28	4743	-			1581			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.4743G>C																																																																																					0.592	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			5	19	0	0	0	0	5	19				
DNAH2	146754	broad.mit.edu	37	17	7736073	7736073	+	Splice_Site	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:7736073C>T	ENST00000572933.1	+	83	14363	c.12903C>T	c.(12901-12903)aaC>aaT	p.N4301N	DNAH2_ENST00000389173.2_Splice_Site_p.N4301N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4301					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCAAAACAACGTGAGCAATG	0.557																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(12901-12903)AAC>AAT		dynein heavy chain domain 3							162.0	166.0	165.0					17																	7736073		2203	4300	6503	SO:0001630	splice_region_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7736073C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12903+1C>T	17.37:g.7736073C>T							p.N4301N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			82	12917	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4301					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.12903C>T	CCDS32551.1																																																																																				0.557	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Silent	172	43	0	0	0	0	172	43				
MYH2	4620	broad.mit.edu	37	17	10433049	10433049	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:10433049G>T	ENST00000245503.5	-	24	3333	c.2949C>A	c.(2947-2949)aaC>aaA	p.N983K	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.N983K|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	983					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTCTGTGAGGTTTTTCACCT	0.473																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(2947-2949)AAC>AAA		myosin heavy chain IIa							203.0	203.0	203.0					17																	10433049		2202	4300	6502	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10433049G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2949C>A	17.37:g.10433049G>T	ENSP00000245503:p.Asn983Lys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.N983K|MYH2_uc010coj.2_Intron	p.N983K	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			24	3077	-			983			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2949C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552961	0.65425	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80909	-1.43;-1.43	5.24	3.21	0.36854	.	0.000000	0.42821	U	0.000653	D	0.83445	0.5256	L	0.52364	1.645	0.49483	D	0.999796	D	0.58970	0.984	P	0.60949	0.881	D	0.84540	0.0638	10	0.87932	D	0	.	10.6462	0.45621	0.2091:0.0:0.7909:0.0	.	983	Q9UKX2	MYH2_HUMAN	K	983	ENSP00000245503:N983K;ENSP00000380367:N983K	ENSP00000245503:N983K	N	-	3	2	MYH2	10373774	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.493000	0.45320	1.438000	0.47492	0.591000	0.81541	AAC		0.473	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		90	87	1	0	2.69e-43	3.08e-43	90	87				
NCOR1	9611	broad.mit.edu	37	17	16068406	16068406	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:16068406G>C	ENST00000268712.3	-	5	762	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q169E|NCOR1_ENST00000395848.1_Missense_Mutation_p.Q60E	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	169	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAGCATTTTGATCATCTCCA	0.393																																						uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(505-507)CAA>GAA		nuclear receptor co-repressor 1							102.0	98.0	99.0					17																	16068406		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16068406G>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.505C>G	17.37:g.16068406G>C	ENSP00000268712:p.Gln169Glu					NCOR1_uc002gpn.2_Missense_Mutation_p.Q169E|NCOR1_uc002gpp.1_Missense_Mutation_p.Q60E|NCOR1_uc002gpr.2_Missense_Mutation_p.Q60E|NCOR1_uc002gps.1_Missense_Mutation_p.Q169E|NCOR1_uc010coz.1_Translation_Start_Site|NCOR1_uc010cpb.1_Missense_Mutation_p.Q169E|NCOR1_uc010cpa.1_Missense_Mutation_p.Q169E|NCOR1_uc002gpu.2_Missense_Mutation_p.Q169E	p.Q169E	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	5	745	-			169			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.505C>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035811	0.35893	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.31769	1.48;1.48;1.48;2.1;2.1	5.04	5.04	0.67666	.	0.106589	0.64402	D	0.000003	T	0.35219	0.0924	L	0.47716	1.5	0.80722	D	1	B;B;P;B;P;P;P	0.45715	0.021;0.036;0.649;0.036;0.865;0.833;0.859	B;B;B;B;P;P;P	0.47673	0.028;0.028;0.228;0.028;0.497;0.451;0.554	T	0.03922	-1.0992	10	0.15952	T	0.53	-14.6814	17.4183	0.87507	0.0:0.0:1.0:0.0	.	169;169;169;169;60;169;169	E7EU93;E7EV02;Q3B773;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;.;NCOR1_HUMAN;.	E	169;169;60;169;60;169;169	ENSP00000268712:Q169E;ENSP00000379192:Q169E;ENSP00000379189:Q60E;ENSP00000407998:Q169E;ENSP00000387727:Q169E	ENSP00000268712:Q169E	Q	-	1	0	NCOR1	16009131	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.489000	0.73641	2.349000	0.79799	0.478000	0.44815	CAA		0.393	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		10	76	0	0	0	0	10	76				
NCOR1	9611	broad.mit.edu	37	17	16068472	16068472	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:16068472G>A	ENST00000268712.3	-	5	696	c.439C>T	c.(439-441)Cca>Tca	p.P147S	NCOR1_ENST00000395851.1_Missense_Mutation_p.P147S|NCOR1_ENST00000395848.1_Missense_Mutation_p.P38S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	147	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCGAATGCTGGATCCTTTAGA	0.393																																						uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(439-441)CCA>TCA		nuclear receptor co-repressor 1							94.0	88.0	90.0					17																	16068472		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16068472G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.439C>T	17.37:g.16068472G>A	ENSP00000268712:p.Pro147Ser					NCOR1_uc002gpn.2_Missense_Mutation_p.P147S|NCOR1_uc002gpp.1_Missense_Mutation_p.P38S|NCOR1_uc002gpr.2_Missense_Mutation_p.P38S|NCOR1_uc002gps.1_Missense_Mutation_p.P147S|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.P147S|NCOR1_uc010cpa.1_Missense_Mutation_p.P147S|NCOR1_uc002gpu.2_Missense_Mutation_p.P147S	p.P147S	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	5	679	-			147			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.439C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	9.269	1.045127	0.19748	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T	0.40756	1.05;1.63;1.02	5.04	1.72	0.24424	.	0.523599	0.22378	N	0.060855	T	0.14485	0.0350	N	0.03324	-0.35	0.37711	D	0.924567	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.002;0.0;0.001;0.0	T	0.16129	-1.0413	10	0.07030	T	0.85	-0.0073	6.0407	0.19732	0.158:0.0:0.6888:0.1532	.	147;147;147;147;38;147;147	E7EU93;E7EV02;Q3B773;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;.;NCOR1_HUMAN;.	S	147;147;38;147;38;147;147	ENSP00000268712:P147S;ENSP00000379192:P147S;ENSP00000379189:P38S	ENSP00000268712:P147S	P	-	1	0	NCOR1	16009197	0.552000	0.26505	0.994000	0.49952	0.816000	0.46133	0.894000	0.28350	0.515000	0.28320	0.478000	0.44815	CCA		0.393	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		8	72	0	0	0	0	8	72				
MYO15A	51168	broad.mit.edu	37	17	18062990	18062990	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:18062990G>A	ENST00000205890.5	+	55	9638	c.9300G>A	c.(9298-9300)ctG>ctA	p.L3100L	MYO15A_ENST00000451725.2_5'UTR|MYO15A_ENST00000418233.3_Silent_p.L364L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3100	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTAACCTCCTGAAGGTCAGTC	0.532																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(9298-9300)CTG>CTA		myosin XV							94.0	98.0	97.0					17																	18062990		1990	4155	6145	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18062990G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9300G>A	17.37:g.18062990G>A						MYO15A_uc010vxi.1_Silent_p.L364L|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Silent_p.L89L|MYO15A_uc002gsl.2_Silent_p.L22L|MYO15A_uc010vxm.1_Silent_p.L22L|MYO15A_uc002gsm.1_5'Flank|MYO15A_uc010cpv.2_5'Flank	p.L3100L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			54	9638	+	all_neural(463;0.228)		3100			Tail.|MyTH4 2.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.9300G>A	CCDS42271.1																																																																																				0.532	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		8	28	0	0	0	0	8	28				
CDK12	51755	broad.mit.edu	37	17	37627593	37627593	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:37627593C>G	ENST00000447079.4	+	2	1541	c.1508C>G	c.(1507-1509)tCt>tGt	p.S503C	CDK12_ENST00000430627.2_Missense_Mutation_p.S503C	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	503					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACAAGAGACTCTAAACCCATA	0.428			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2		NA		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(1507-1509)TCT>TGT		Cdc2-related kinase, arginine/serine-rich							118.0	128.0	124.0					17																	37627593		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627593C>G	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1508C>G	17.37:g.37627593C>G	ENSP00000398880:p.Ser503Cys	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Missense_Mutation_p.S502C|CDK12_uc002hrw.3_Missense_Mutation_p.S503C	p.S503C	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			2	2094	+			503					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.1508C>G	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	7.798	0.712999	0.15306	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.70282	-0.47;-0.46	5.98	1.72	0.24424	.	0.771452	0.11457	N	0.562209	T	0.43456	0.1248	N	0.03608	-0.345	0.09310	N	0.999996	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26538	-1.0100	10	0.33141	T	0.24	-0.1672	6.0772	0.19921	0.0:0.4732:0.2221:0.3047	.	502;503;503	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	C	503	ENSP00000407720:S503C;ENSP00000398880:S503C	ENSP00000407720:S503C	S	+	2	0	CDK12	34881119	0.026000	0.19158	0.452000	0.26994	0.979000	0.70002	-0.268000	0.08607	0.117000	0.18138	0.650000	0.86243	TCT		0.428	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		26	111	0	0	0	0	26	111				
NMT1	4836	broad.mit.edu	37	17	43159057	43159057	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:43159057G>C	ENST00000592782.1	+	3	308	c.177G>C	c.(175-177)aaG>aaC	p.K59N	NMT1_ENST00000258960.2_Missense_Mutation_p.K59N|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	59	Poly-Lys.				apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				agaagaaaaagaaacaaaaaa	0.378																																						uc002ihz.2		NA																	0					0						c.(175-177)AAG>AAC		N-myristoyltransferase 1							54.0	57.0	56.0					17																	43159057		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43159057G>C		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.177G>C	17.37:g.43159057G>C	ENSP00000468424:p.Lys59Asn					NMT1_uc010dac.1_Intron|NMT1_uc002iia.2_RNA	p.K59N	NM_021079	NP_066565	P30419	NMT1_HUMAN			2	195	+		Prostate(33;0.155)	59			Poly-Lys.		A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.177G>C	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118905	0.56505	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.50277	0.75;0.91	5.38	5.38	0.77491	.	0.247105	0.44902	D	0.000403	T	0.48822	0.1521	M	0.67397	2.05	0.45690	D	0.998608	P	0.40909	0.732	B	0.38056	0.264	T	0.52253	-0.8600	10	0.45353	T	0.12	-16.7352	17.0895	0.86618	0.0:0.0:1.0:0.0	.	59	P30419	NMT1_HUMAN	N	59	ENSP00000258960:K59N;ENSP00000439263:K59N	ENSP00000258960:K59N	K	+	3	2	NMT1	40514583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.183000	0.50918	2.802000	0.96397	0.655000	0.94253	AAG		0.378	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		5	28	0	0	0	0	5	28				
ABCA5	23461	broad.mit.edu	37	17	67287394	67287394	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:67287394C>T	ENST00000392676.3	-	12	1633	c.1569G>A	c.(1567-1569)ttG>ttA	p.L523L	ABCA5_ENST00000392677.2_Silent_p.L523L|ABCA5_ENST00000588877.1_Silent_p.L523L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	523	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GAATATTCATCAATGTACTCT	0.338																																						uc002jif.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1567-1569)TTG>TTA		ATP-binding cassette, sub-family A , member 5							93.0	91.0	91.0					17																	67287394		2203	4300	6503	SO:0001819	synonymous_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67287394C>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1569G>A	17.37:g.67287394C>T						ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.L523L|ABCA5_uc002jih.2_Silent_p.L523L|ABCA5_uc010dfe.2_Silent_p.L523L	p.L523L	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			11	2787	-	Breast(10;3.72e-11)		523			ABC transporter 1.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	ENST00000392676.3	37	c.1569G>A	CCDS11685.1																																																																																				0.338	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		10	46	0	0	0	0	10	46				
KIF19	124602	broad.mit.edu	37	17	72348997	72348997	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:72348997C>G	ENST00000389916.4	+	15	2156	c.2018C>G	c.(2017-2019)tCa>tGa	p.S673*	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	673					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGGAACCTCACTGACCCCA	0.567																																						uc002jkm.3		NA																	0					0						c.(2017-2019)TCA>TGA		kinesin family member 19							119.0	128.0	125.0					17																	72348997		1989	4180	6169	SO:0001587	stop_gained	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72348997C>G	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2018C>G	17.37:g.72348997C>G	ENSP00000374566:p.Ser673*						p.S673*	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			15	2156	+			673					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Nonsense_Mutation	SNP	ENST00000389916.4	37	c.2018C>G	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	32	5.144961	0.94603	.	.	ENSG00000196169	ENST00000389916	.	.	.	5.22	1.32	0.21799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	8.2959	0.31984	0.0:0.4712:0.0:0.5288	.	.	.	.	X	673	.	ENSP00000374566:S673X	S	+	2	0	KIF19	69860592	0.000000	0.05858	0.001000	0.08648	0.454000	0.32378	0.233000	0.17911	0.198000	0.20407	0.456000	0.33151	TCA		0.567	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		17	91	0	0	0	0	17	91				
AFMID	125061	broad.mit.edu	37	17	76187113	76187113	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:76187113G>C	ENST00000586731.1	+	2	96	c.75G>C	c.(73-75)ttG>ttC	p.L25F	AFMID_ENST00000327898.5_Missense_Mutation_p.L42F|AFMID_ENST00000589256.1_Missense_Mutation_p.L42F|AFMID_ENST00000591952.1_Missense_Mutation_p.L42F|AFMID_ENST00000588800.1_Missense_Mutation_p.L42F|AFMID_ENST00000409257.5_Missense_Mutation_p.L42F					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGGAAGCCTTGAGGACCTACT	0.542																																						uc002jva.3		NA																	0				large_intestine(1)|pancreas(1)	2						c.(124-126)TTG>TTC		arylformamidase isoform 1							143.0	100.0	114.0					17																	76187113		2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76187113G>C	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000586731.1:c.75G>C	17.37:g.76187113G>C	ENSP00000466241:p.Leu25Phe					AFMID_uc002juy.3_RNA|AFMID_uc010dhj.2_Missense_Mutation_p.L42F|AFMID_uc002jvb.3_Missense_Mutation_p.L42F|AFMID_uc002juz.3_Missense_Mutation_p.L42F	p.L42F	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		2	141	+			42						Missense_Mutation	SNP	ENST00000586731.1	37	c.126G>C		.	.	.	.	.	.	.	.	.	.	G	16.50	3.139659	0.56936	.	.	ENSG00000183077	ENST00000409257;ENST00000409431;ENST00000409722;ENST00000392388;ENST00000327898	.	.	.	4.81	-0.0459	0.13849	.	0.218463	0.35970	N	0.002873	T	0.28599	0.0708	L	0.39898	1.24	0.09310	N	1	P;P;P;P	0.51351	0.904;0.944;0.845;0.904	P;P;B;P	0.53722	0.494;0.733;0.298;0.494	T	0.21415	-1.0246	9	0.10377	T	0.69	-5.6838	2.3114	0.04187	0.0942:0.2349:0.2784:0.3925	.	42;42;42;42	A5PLM3;B8ZZB1;Q63HM1;Q63HM1-2	.;.;AFMID_HUMAN;.	F	42	.	ENSP00000328938:L42F	L	+	3	2	AFMID	73698708	0.021000	0.18746	0.007000	0.13788	0.408000	0.30992	-0.028000	0.12350	0.924000	0.37069	0.543000	0.68304	TTG		0.542	AFMID-015	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000438866.1	XM_058889		4	12	0	0	0	0	4	12				
CCDC40	55036	broad.mit.edu	37	17	78032313	78032313	+	Missense_Mutation	SNP	A	A	G	rs375423897		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:78032313A>G	ENST00000397545.4	+	8	1207	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	CCDC40_ENST00000374877.3_Missense_Mutation_p.M394V|CCDC40_ENST00000269318.5_Missense_Mutation_p.M394V|CCDC40_ENST00000374876.4_Missense_Mutation_p.M394V	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	394					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCAGACTGAGATGGAGAACTT	0.602																																						uc010dht.2		NA																	0				ovary(3)	3						c.(1180-1182)ATG>GTG		coiled-coil domain containing 40							39.0	43.0	41.0					17																	78032313		2104	4224	6328	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78032313A>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1180A>G	17.37:g.78032313A>G	ENSP00000380679:p.Met394Val					CCDC40_uc010wub.1_Missense_Mutation_p.M394V|CCDC40_uc002jxm.3_Missense_Mutation_p.M177V	p.M394V	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		8	1207	+	all_neural(118;0.167)		394			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1180A>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	0.068	-1.208118	0.01568	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.44482	0.96;2.05;0.92;0.99	4.41	-8.81	0.00813	.	.	.	.	.	T	0.14141	0.0342	N	0.13235	0.315	0.09310	N	1	B;B;B	0.12630	0.006;0.002;0.001	B;B;B	0.15484	0.013;0.002;0.003	T	0.26155	-1.0111	9	0.02654	T	1	-15.962	2.2846	0.04123	0.1984:0.2845:0.3399:0.1772	.	394;394;177	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	V	394	ENSP00000364011:M394V;ENSP00000269318:M394V;ENSP00000364010:M394V;ENSP00000380679:M394V	ENSP00000269318:M394V	M	+	1	0	CCDC40	75646908	0.059000	0.20769	0.055000	0.19348	0.929000	0.56500	-1.225000	0.02956	-2.590000	0.00457	0.260000	0.18958	ATG		0.602	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		8	37	0	0	0	0	8	37				
NPLOC4	55666	broad.mit.edu	37	17	79534533	79534533	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:79534533C>A	ENST00000331134.6	-	15	1691	c.1476G>T	c.(1474-1476)ttG>ttT	p.L492F	NPLOC4_ENST00000374747.5_Missense_Mutation_p.L492F|NPLOC4_ENST00000572760.1_5'Flank|NPLOC4_ENST00000539314.1_Missense_Mutation_p.L331F|NPLOC4_ENST00000573876.1_5'Flank	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	492					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TATTCTGAGACAAATAGGTGG	0.478																																						uc002kat.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1474-1476)TTG>TTT		nuclear protein localization 4							109.0	105.0	106.0					17																	79534533		1970	4165	6135	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79534533C>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1476G>T	17.37:g.79534533C>A	ENSP00000331487:p.Leu492Phe					NPLOC4_uc002kau.3_Missense_Mutation_p.L492F|NPLOC4_uc010wur.1_Missense_Mutation_p.L331F|NPLOC4_uc010dic.2_5'Flank|NPLOC4_uc002kas.2_Missense_Mutation_p.C16F	p.L492F	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		15	1658	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		492					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1476G>T	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106490	0.37145	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.83	4.86	0.63082	Nuclear pore localisation protein NPL4 (1);	0.000000	0.85682	D	0.000000	T	0.77075	0.4077	M	0.81802	2.56	0.58432	D	0.999991	P;D;D	0.89917	0.599;0.997;1.0	P;D;D	0.83275	0.501;0.951;0.996	T	0.76966	-0.2763	9	0.39692	T	0.17	-19.8539	9.6468	0.39872	0.1401:0.7886:0.0:0.0713	.	331;492;492	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	F	492;491;331	.	ENSP00000331487:L492F	L	-	3	2	NPLOC4	77144971	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	0.900000	0.28431	1.481000	0.48307	-0.150000	0.13652	TTG		0.478	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			6	9	1	0	0.00116845	0.00121194	6	9				
HGS	9146	broad.mit.edu	37	17	79667588	79667588	+	Silent	SNP	C	C	T	rs370738298		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:79667588C>T	ENST00000329138.4	+	19	2109	c.1974C>T	c.(1972-1974)ccC>ccT	p.P658P	SLC25A10_ENST00000541223.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000571730.1_5'Flank|MRPL12_ENST00000333676.3_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	658	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.P658P(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCGCCAGCCCCGCTTACTCAT	0.692																																						uc002kbg.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)	1						c.(1972-1974)CCC>CCT		hepatocyte growth factor-regulated tyrosine		C		0,4404		0,0,2202	27.0	33.0	31.0		1974	-8.8	0.9	17		31	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HGS	NM_004712.4		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		658/778	79667588	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79667588C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1974C>T	17.37:g.79667588C>T						MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	p.P658P	NM_004712	NP_004703	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		19	2051	+	all_neural(118;0.0878)|all_lung(278;0.23)		658			Interaction with NF2.|Gln-rich.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.1974C>T	CCDS11784.1																																																																																				0.692	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		54	7	0	0	0	0	54	7				
ALYREF	10189	broad.mit.edu	37	17	79847182	79847182	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr17:79847182C>T	ENST00000331204.4	-	3	419	c.393G>A	c.(391-393)acG>acA	p.T131T	ANAPC11_ENST00000571570.1_5'Flank|ANAPC11_ENST00000579133.1_5'Flank|ANAPC11_ENST00000578550.1_5'Flank|ANAPC11_ENST00000572851.2_5'Flank|ANAPC11_ENST00000583839.1_5'Flank|ANAPC11_ENST00000584314.1_5'Flank|ANAPC11_ENST00000572639.1_5'Flank|ANAPC11_ENST00000577425.1_5'Flank|ANAPC11_ENST00000571024.2_5'Flank|ANAPC11_ENST00000357385.3_5'Flank|ANAPC11_ENST00000577747.1_5'Flank|ANAPC11_ENST00000582222.1_5'Flank|ANAPC11_ENST00000574924.2_5'Flank|ANAPC11_ENST00000392376.3_5'Flank|ANAPC11_ENST00000571874.2_5'Flank|ALYREF_ENST00000512673.1_5'UTR|ANAPC11_ENST00000344877.5_5'Flank|ANAPC11_ENST00000579978.1_5'Flank|ALYREF_ENST00000505490.2_Silent_p.T138T	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	131	Ala/Arg/Gly-rich.|Interaction with HHV-8 ORF57 protein and with ICP27 from HHV-1. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)										CCTTCTTCAGCGTTCCAAATT	0.547																																						uc002kbu.2		NA																	0					0						c.(412-414)ACG>ACA		THO complex 4							120.0	110.0	113.0					17																	79847182		2203	4300	6503	SO:0001819	synonymous_variant	10189				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding	g.chr17:79847182C>T	AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"""THO complex subunits"", ""RNA binding motif (RRM) containing"""	19071	protein-coding gene	gene with protein product		604171	"""THO complex 4"""	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.393G>A	17.37:g.79847182C>T						ANAPC11_uc002kbv.1_5'Flank|ANAPC11_uc002kbw.1_5'Flank|ANAPC11_uc002kbx.1_5'Flank|ANAPC11_uc002kby.1_5'Flank|ANAPC11_uc002kbz.1_5'Flank|ANAPC11_uc002kca.1_5'Flank|ANAPC11_uc002kcb.1_5'Flank|ANAPC11_uc002kcc.1_5'Flank	p.T138T	NM_005782	NP_005773	Q86V81	THOC4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	420	-	all_neural(118;0.0878)|Ovarian(332;0.12)		131			RRM.|Ala/Arg/Gly-rich.		O43672	Silent	SNP	ENST00000331204.4	37	c.414G>A																																																																																					0.547	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005782		47	15	0	0	0	0	47	15				
TGIF1	7050	broad.mit.edu	37	18	3456381	3456381	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr18:3456381G>C	ENST00000330513.5	+	2	736	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	TGIF1_ENST00000472042.1_5'UTR|TGIF1_ENST00000548489.2_Missense_Mutation_p.E30Q|TGIF1_ENST00000343820.5_Missense_Mutation_p.E16Q|TGIF1_ENST00000551541.1_5'UTR|TGIF1_ENST00000400167.2_5'UTR|TGIF1_ENST00000401449.1_5'UTR|TGIF1_ENST00000345133.5_5'UTR|TGIF1_ENST00000577543.1_Missense_Mutation_p.E16Q|TGIF1_ENST00000405385.3_5'UTR|TGIF1_ENST00000551402.1_Missense_Mutation_p.E16Q|TGIF1_ENST00000407501.2_Missense_Mutation_p.E16Q	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	145					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E145Q(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CAGTGAGACTGAGGATGAGGA	0.502																																						uc002klz.2		NA																	1	Substitution - Missense(1)		cervix(1)	ovary(1)	1						c.(433-435)GAG>CAG		TG-interacting factor isoform a							378.0	366.0	370.0					18																	3456381		2203	4300	6503	SO:0001583	missense	7050				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr18:3456381G>C	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.433G>C	18.37:g.3456381G>C	ENSP00000327959:p.Glu145Gln					TGIF1_uc002klu.2_5'UTR|TGIF1_uc002klv.2_Missense_Mutation_p.E30Q|TGIF1_uc002klx.2_5'UTR|TGIF1_uc002klw.2_Missense_Mutation_p.E16Q|TGIF1_uc010dkm.1_Missense_Mutation_p.E16Q|TGIF1_uc002kly.2_Missense_Mutation_p.E16Q|TGIF1_uc002kma.2_5'UTR|TGIF1_uc002kmb.2_5'UTR|TGIF1_uc002kmc.2_5'UTR	p.E145Q	NM_170695	NP_733796	Q15583	TGIF1_HUMAN			2	820	+	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)	145					A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	37	c.433G>C	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072752	0.55646	.	.	ENSG00000177426	ENST00000548489;ENST00000549253;ENST00000343820;ENST00000407501;ENST00000546979;ENST00000551402;ENST00000330513	T;T;T;T;T;T	0.73152	0.56;0.51;0.51;-0.72;0.73;0.58	5.73	5.73	0.89815	.	0.382752	0.31484	N	0.007576	T	0.81545	0.4845	L	0.49778	1.585	0.80722	D	1	D;B;B;B	0.89917	1.0;0.293;0.158;0.166	D;B;B;B	0.77004	0.989;0.052;0.107;0.108	T	0.79541	-0.1761	10	0.42905	T	0.14	-11.8939	19.8959	0.96958	0.0:0.0:1.0:0.0	.	16;145;16;30	F8W1J9;Q15583;Q15583-2;F8VZB6	.;TGIF1_HUMAN;.;.	Q	30;19;16;16;16;16;145	ENSP00000447747:E30Q;ENSP00000339631:E16Q;ENSP00000384133:E16Q;ENSP00000448934:E16Q;ENSP00000446944:E16Q;ENSP00000327959:E145Q	ENSP00000327959:E145Q	E	+	1	0	TGIF1	3446381	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	9.083000	0.94067	2.704000	0.92352	0.655000	0.94253	GAG		0.502	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		6	563	0	0	0	0	6	563				
POTEC	388468	broad.mit.edu	37	18	14542916	14542916	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr18:14542916G>T	ENST00000358970.5	-	1	229	c.230C>A	c.(229-231)aCg>aAg	p.T77K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	77										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CACGTTGCTCGTGCCGCTCCC	0.577																																						uc010dln.2		NA																	0				skin(3)	3						c.(229-231)ACG>AAG		ANKRD26-like family B, member 2							42.0	51.0	48.0					18																	14542916		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542916G>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.230C>A	18.37:g.14542916G>T	ENSP00000351856:p.Thr77Lys					POTEC_uc010xaj.1_RNA	p.T77K	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	684	-			77						Missense_Mutation	SNP	ENST00000358970.5	37	c.230C>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.707401	0.00096	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.22743	1.94	0.429	-0.857	0.10693	.	.	.	.	.	T	0.03827	0.0108	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	8	0.02654	T	1	.	.	.	.	.	77	B2RU33	POTEC_HUMAN	K	77	ENSP00000351856:T77K	ENSP00000351856:T77K	T	-	2	0	POTEC	14532916	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.710000	0.01888	-2.489000	0.00518	-1.883000	0.00544	ACG		0.577	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		9	210	1	0	6.32e-08	6.82e-08	9	210				
TRAPPC8	22878	broad.mit.edu	37	18	29450923	29450923	+	Silent	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr18:29450923T>C	ENST00000283351.4	-	15	2558	c.2223A>G	c.(2221-2223)tcA>tcG	p.S741S	TRAPPC8_ENST00000582539.1_Silent_p.S687S	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	741					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGAATTATCTGAGTAACTGT	0.328																																						uc002kxc.3		NA																	0					0						c.(2221-2223)TCA>TCG		hypothetical protein LOC22878							89.0	83.0	85.0					18																	29450923		2203	4300	6503	SO:0001819	synonymous_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29450923T>C	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2223A>G	18.37:g.29450923T>C						KIAA1012_uc002kxb.3_Silent_p.S687S|KIAA1012_uc002kxd.3_RNA	p.S741S	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			15	2587	-			741					A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	c.2223A>G	CCDS11901.1																																																																																				0.328	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		9	9	0	0	0	0	9	9				
CXXC1	30827	broad.mit.edu	37	18	47812911	47812911	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr18:47812911C>G	ENST00000285106.6	-	3	935	c.221G>C	c.(220-222)aGa>aCa	p.R74T	CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000412036.2_Missense_Mutation_p.R74T|CXXC1_ENST00000589940.1_Missense_Mutation_p.R74T	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	74					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GCCCTCACCTCTGCACTCCCG	0.592																																						uc002leq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(220-222)AGA>ACA		CXXC finger 1 (PHD domain) isoform 2							117.0	98.0	105.0					18																	47812911		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812911C>G	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.221G>C	18.37:g.47812911C>G	ENSP00000285106:p.Arg74Thr					CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.R74T|CXXC1_uc010doy.2_Missense_Mutation_p.R74T|CXXC1_uc002les.2_Missense_Mutation_p.R74T	p.R74T	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			3	954	-			74			PHD-type.		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.221G>C	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281937	0.40394	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	D;D	0.84370	-1.84;-1.84	3.6	2.73	0.32206	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	U	0.000000	D	0.87277	0.6137	L	0.42632	1.34	0.49582	D	0.999804	D;D;B;B	0.89917	1.0;0.975;0.186;0.223	D;D;B;B	0.91635	0.999;0.987;0.121;0.192	D	0.84847	0.0811	10	0.46703	T	0.11	-20.9806	8.9413	0.35731	0.0:0.8845:0.0:0.1155	.	74;74;74;74	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	T	74	ENSP00000285106:R74T;ENSP00000390475:R74T	ENSP00000285106:R74T	R	-	2	0	CXXC1	46066909	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	4.086000	0.57664	0.643000	0.30638	0.448000	0.29417	AGA		0.592	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		20	43	0	0	0	0	20	43				
TXNL1	9352	broad.mit.edu	37	18	54285302	54285302	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr18:54285302T>G	ENST00000217515.6	-	4	629	c.425A>C	c.(424-426)gAt>gCt	p.D142A	TXNL1_ENST00000590954.1_Missense_Mutation_p.D142A|TXNL1_ENST00000540155.1_Missense_Mutation_p.D19A	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	142	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TCCATGCTCATCACTTTCATT	0.353																																						uc002lgg.2		NA																	0					0						c.(424-426)GAT>GCT		thioredoxin-like 1							168.0	149.0	155.0					18																	54285302		2203	4300	6503	SO:0001583	missense	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54285302T>G	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.425A>C	18.37:g.54285302T>G	ENSP00000217515:p.Asp142Ala					TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.D142A|TXNL1_uc002lgj.1_Missense_Mutation_p.D142A	p.D142A	NM_004786	NP_004777	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	4	674	-			142			PITH.			Missense_Mutation	SNP	ENST00000217515.6	37	c.425A>C	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.659981	0.88154	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.17528	2.27	5.79	5.79	0.91817	Proteasome-interacting thioredoxin-like domain, C-terminal (1);Galactose-binding domain-like (1);	0.042971	0.85682	D	0.000000	T	0.37945	0.1022	M	0.68952	2.095	0.80722	D	1	D;P	0.54772	0.968;0.93	P;P	0.60949	0.821;0.881	T	0.07121	-1.0789	10	0.51188	T	0.08	.	15.7783	0.78242	0.0:0.0:0.0:1.0	.	142;142	B2R960;O43396	.;TXNL1_HUMAN	A	142;19	ENSP00000217515:D142A	ENSP00000217515:D142A	D	-	2	0	TXNL1	52436300	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.613000	0.82986	2.205000	0.71048	0.482000	0.46254	GAT		0.353	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			17	31	0	0	0	0	17	31				
ZNF516	9658	broad.mit.edu	37	18	74154474	74154474	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr18:74154474G>A	ENST00000443185.2	-	3	854	c.537C>T	c.(535-537)tgC>tgT	p.C179C	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ACTGGCTCTTGCAGAAGGAGC	0.672																																						uc010dqx.1		NA																	0				ovary(1)	1						c.(535-537)TGC>TGT		zinc finger protein 516							19.0	21.0	20.0					18																	74154474		2107	4208	6315	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154474G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.537C>T	18.37:g.74154474G>A						ZNF516_uc002lme.2_RNA	p.C179C	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	772	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	179			C2H2-type 3.			Silent	SNP	ENST00000443185.2	37	c.537C>T																																																																																					0.672	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		4	19	0	0	0	0	4	19				
NCLN	56926	broad.mit.edu	37	19	3192652	3192652	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:3192652C>T	ENST00000246117.4	+	2	800	c.369C>T	c.(367-369)gtC>gtT	p.V123V	NCLN_ENST00000590671.1_Silent_p.V49V	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	123					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGACGTCGTCCGGGTGA	0.697																																						uc002lxi.2		NA																	0					0						c.(367-369)GTC>GTT		nicalin precursor							11.0	12.0	12.0					19																	3192652		2147	4212	6359	SO:0001819	synonymous_variant	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3192652C>T	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.369C>T	19.37:g.3192652C>T						NCLN_uc002lxh.1_RNA	p.V123V	NM_020170	NP_064555	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	2	523	+		Hepatocellular(1079;0.137)	123			Lumenal (Potential).		D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	c.369C>T	CCDS32869.1																																																																																				0.697	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		7	15	0	0	0	0	7	15				
DAPK3	1613	broad.mit.edu	37	19	3964692	3964692	+	Silent	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:3964692G>C	ENST00000545797.2	-	3	603	c.360C>G	c.(358-360)ctC>ctG	p.L120L	DAPK3_ENST00000301264.3_Silent_p.L120L			O43293	DAPK3_HUMAN	death-associated protein kinase 3	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATCTGCTTGAGGAACTGGG	0.632																																						uc002lzc.1		NA																	0				central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7						c.(358-360)CTC>CTG		death-associated protein kinase 3							124.0	122.0	123.0					19																	3964692		2203	4300	6503	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964692G>C	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.360C>G	19.37:g.3964692G>C						DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Silent_p.L120L	p.L120L	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	453	-		Hepatocellular(1079;0.137)	120			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.360C>G	CCDS12116.1																																																																																				0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		27	66	0	0	0	0	27	66				
PPAN	56342	broad.mit.edu	37	19	10221801	10221801	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:10221801G>A	ENST00000253107.7	+	12	1488	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	PPAN_ENST00000556468.1_Intron|PPAN-P2RY11_ENST00000428358.1_Intron|PPAN-P2RY11_ENST00000393796.4_Intron|SNORD105B_ENST00000458770.1_RNA|P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000393793.1_Missense_Mutation_p.R408Q	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	461					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GATGGTGGGCGAGGCCGGGGC	0.697																																						uc002mmz.1		NA																	0					0						c.(1381-1383)CGA>CAA		peter pan homolog							8.0	11.0	10.0					19																	10221801		2179	4274	6453	SO:0001583	missense	56342				RNA splicing	nucleolus	protein binding	g.chr19:10221801G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.1382G>A	19.37:g.10221801G>A	ENSP00000253107:p.Arg461Gln					PPAN-P2RY11_uc010xla.1_Intron|PPAN-P2RY11_uc002mna.2_Intron|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mnb.1_Missense_Mutation_p.R408Q	p.R461Q	NM_020230	NP_064615	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		12	1488	+			461					C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.1382G>A	CCDS12225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.909|9.909	1.208908|1.208908	0.22205|0.22205	.|.	.|.	ENSG00000130810|ENSG00000130810	ENST00000444703|ENST00000253107;ENST00000342696;ENST00000393793	.|T;T	.|0.30714	.|1.53;1.52	3.98|3.98	-4.94|-4.94	0.03057|0.03057	.|.	.|.	.|.	.|.	.|.	T|T	0.12390|0.12390	0.0301|0.0301	N|N	0.19112|0.19112	0.55|0.55	0.19775|0.19775	N|N	0.999952|0.999952	.|B	.|0.14438	.|0.01	.|B	.|0.04013	.|0.001	T|T	0.31861|0.31861	-0.9928|-0.9928	5|9	.|0.15499	.|T	.|0.54	.|.	1.4212|1.4212	0.02313|0.02313	0.4319:0.1414:0.2836:0.1431|0.4319:0.1414:0.2836:0.1431	.|.	.|461	.|Q9NQ55	.|SSF1_HUMAN	K|Q	196|461;448;408	.|ENSP00000253107:R461Q;ENSP00000377382:R408Q	.|ENSP00000253107:R461Q	E|R	+|+	1|2	0|0	PPAN|PPAN	10082801|10082801	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.976000|-0.976000	0.03786|0.03786	-0.950000|-0.950000	0.03659|0.03659	-0.258000|-0.258000	0.10820|0.10820	GAG|CGA		0.697	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		4	7	0	0	0	0	4	7				
LDLR	3949	broad.mit.edu	37	19	11233896	11233896	+	Silent	SNP	A	A	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:11233896A>G	ENST00000558518.1	+	15	2374	c.2187A>G	c.(2185-2187)ctA>ctG	p.L729L	LDLR_ENST00000535915.1_Silent_p.L688L|LDLR_ENST00000557933.1_Silent_p.L729L|LDLR_ENST00000455727.2_Silent_p.L561L|LDLR_ENST00000558013.1_Silent_p.L729L|LDLR_ENST00000545707.1_Silent_p.L551L	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	729	Clustered O-linked oligosaccharides.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CCGTCAGGCTAAAGGTCAGCT	0.612																																					GBM(18;201 575 7820 21545)	uc002mqk.3		NA																	0				ovary(2)|skin(2)	4						c.(2185-2187)CTA>CTG		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						171.0	128.0	143.0					19																	11233896		2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11233896A>G	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2187A>G	19.37:g.11233896A>G						LDLR_uc010xlk.1_Silent_p.L729L|LDLR_uc010xll.1_Silent_p.L688L|LDLR_uc010xlm.1_Silent_p.L582L|LDLR_uc010xln.1_Silent_p.L551L|LDLR_uc010xlo.1_Silent_p.L561L	p.L729L	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	15	2355	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	729			Clustered O-linked oligosaccharides.|Extracellular (Potential).		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.2187A>G	CCDS12254.1																																																																																				0.612	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			14	47	0	0	0	0	14	47				
CCDC105	126402	broad.mit.edu	37	19	15132719	15132719	+	Silent	SNP	G	G	A	rs201682023		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:15132719G>A	ENST00000292574.3	+	6	1321	c.1239G>A	c.(1237-1239)gcG>gcA	p.A413A		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	413						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGGAGGCTGCGCGCCTCGCAC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		12843	0.0		0.001	False		,,,				2504	0.0					uc002nae.2		NA																	0				ovary(1)	1						c.(1237-1239)GCG>GCA		coiled-coil domain containing 105		G		1,4405	2.1+/-5.4	0,1,2202	48.0	54.0	52.0		1239	-1.6	0.2	19		52	0,8600		0,0,4300	no	coding-synonymous	CCDC105	NM_173482.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		413/500	15132719	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132719G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1239G>A	19.37:g.15132719G>A							p.A413A	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			6	1338	+			413					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.1239G>A	CCDS12322.1																																																																																				0.617	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		26	16	0	0	0	0	26	16				
CASP14	23581	broad.mit.edu	37	19	15164426	15164426	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:15164426G>C	ENST00000427043.3	+	3	469	c.161G>C	c.(160-162)aGa>aCa	p.R54T	CASP14_ENST00000221740.1_Missense_Mutation_p.R54T|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	54					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ACCATGAAAAGAGACCCCACT	0.537																																						uc010dzv.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(160-162)AGA>ACA		caspase 14 precursor							82.0	81.0	81.0					19																	15164426		2203	4300	6503	SO:0001583	missense	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15164426G>C		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.161G>C	19.37:g.15164426G>C	ENSP00000393417:p.Arg54Thr					CASP14_uc002naf.2_Missense_Mutation_p.R54T	p.R54T	NM_012114	NP_036246	P31944	CASPE_HUMAN			3	469	+			54					O95823|Q3SYC9	Missense_Mutation	SNP	ENST00000427043.3	37	c.161G>C	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	g	0.302	-0.973381	0.02215	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.20332	2.08;2.08	4.91	1.55	0.23275	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.894418	0.09634	N	0.775846	T	0.15739	0.0379	L	0.37800	1.135	0.29188	N	0.876064	P	0.34892	0.474	B	0.37833	0.259	T	0.32161	-0.9917	10	0.21540	T	0.41	.	4.4285	0.11515	0.1917:0.0:0.6312:0.1772	.	54	P31944	CASPE_HUMAN	T	54	ENSP00000393417:R54T;ENSP00000221740:R54T	ENSP00000221740:R54T	R	+	2	0	CASP14	15025426	0.919000	0.31177	0.924000	0.36721	0.541000	0.35023	0.111000	0.15458	0.127000	0.18452	0.306000	0.20318	AGA		0.537	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		17	60	0	0	0	0	17	60				
CPAMD8	27151	broad.mit.edu	37	19	17086829	17086829	+	Missense_Mutation	SNP	G	G	A	rs367916283		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:17086829G>A	ENST00000443236.1	-	16	2063	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	631						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGAGTCAGCCGGAACCCAGAC	0.602																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(2032-2034)CGG>TGG		C3 and PZP-like, alpha-2-macroglobulin domain		G	TRP/ARG	1,4325		0,1,2162	39.0	46.0	44.0		2032	1.7	0.9	19		44	0,8550		0,0,4275	no	missense	CPAMD8	NM_015692.2	101	0,1,6437	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging	678/1933	17086829	1,12875	2163	4275	6438	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17086829G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2032C>T	19.37:g.17086829G>A	ENSP00000402505:p.Arg678Trp						p.R678W	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			16	2064	-			631					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2032C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447848	0.63178	2.31E-4	0.0	ENSG00000160111	ENST00000291440	.	.	.	2.74	1.66	0.24008	.	6.474870	0.00897	U	0.002319	T	0.41442	0.1159	N	0.22421	0.69	0.80722	D	1	D	0.65815	0.995	B	0.44315	0.446	T	0.24225	-1.0166	9	0.72032	D	0.01	.	9.5579	0.39351	0.1097:0.0:0.8903:0.0	.	631	Q8IZJ3	CPMD8_HUMAN	W	678	.	ENSP00000291440:R678W	R	-	1	2	CPAMD8	16947829	1.000000	0.71417	0.866000	0.34008	0.912000	0.54170	3.846000	0.55888	0.291000	0.22468	0.556000	0.70494	CGG		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		12	11	0	0	0	0	12	11				
SUGP1	57794	broad.mit.edu	37	19	19431288	19431288	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:19431288G>A	ENST00000247001.5	-	1	365	c.18C>T	c.(16-18)gaC>gaT	p.D6D	SUGP1_ENST00000334782.5_Silent_p.D6D|MAU2_ENST00000262815.8_5'Flank|MAU2_ENST00000392313.6_5'Flank|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	6					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CATCCCGGTTGTCCATCTTGA	0.632																																						uc002nmh.2		NA																	0					0						c.(16-18)GAC>GAT		splicing factor 4							92.0	96.0	94.0					19																	19431288		2203	4300	6503	SO:0001819	synonymous_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19431288G>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.18C>T	19.37:g.19431288G>A						SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA|KIAA0892_uc002nmk.3_5'Flank	p.D6D	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			1	20	-			6					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Silent	SNP	ENST00000247001.5	37	c.18C>T	CCDS12399.1																																																																																				0.632	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		24	41	0	0	0	0	24	41				
ZNF257	113835	broad.mit.edu	37	19	22271115	22271115	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:22271115T>A	ENST00000594947.1	+	4	707	c.563T>A	c.(562-564)cTa>cAa	p.L188Q	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTTCACAACTAACTCGACAT	0.338																																						uc010ecx.2		NA																	0					0						c.(562-564)CTA>CAA		zinc finger protein 257							43.0	44.0	44.0					19																	22271115		2201	4297	6498	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271115T>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.563T>A	19.37:g.22271115T>A	ENSP00000470209:p.Leu188Gln					ZNF257_uc010ecy.2_Missense_Mutation_p.L156Q	p.L188Q	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	732	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	188			C2H2-type 1.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.563T>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.448785	0.26074	.	.	ENSG00000197134	ENST00000435820	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78142	0.4237	H	0.97682	4.055	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.64892	-0.6300	8	0.87932	D	0	.	7.1199	0.25437	0.0:0.0:0.0:1.0	.	188	Q9Y2Q1	ZN257_HUMAN	Q	188	.	ENSP00000406147:L188Q	L	+	2	0	ZNF257	22062955	0.135000	0.22499	0.003000	0.11579	0.043000	0.13939	2.611000	0.46334	0.436000	0.26393	0.260000	0.18958	CTA		0.338	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			4	18	0	0	0	0	4	18				
ZNF780A	284323	broad.mit.edu	37	19	40582009	40582009	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:40582009C>G	ENST00000595687.2	-	6	549	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E114Q|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E115Q|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E115Q|ZNF780A_ENST00000450241.2_Missense_Mutation_p.E80Q	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E115Q(1)|p.E80Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAAAAGGCCTCAATGCCAAGA	0.328																																						uc002omy.2		NA																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(340-342)GAG>CAG		zinc finger protein 780A isoform b							118.0	110.0	113.0					19																	40582009		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40582009C>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.340G>C	19.37:g.40582009C>G	ENSP00000472189:p.Glu114Gln					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E114Q|ZNF780A_uc010xvh.1_Missense_Mutation_p.E115Q	p.E114Q	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	565	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		114					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.340G>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	2.640	-0.284374	0.05605	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.05996	3.36;3.38	1.61	-3.21	0.05140	.	.	.	.	.	T	0.03305	0.0096	L	0.35854	1.095	0.09310	N	1	P;B	0.39480	0.675;0.421	B;B	0.31686	0.134;0.059	T	0.38993	-0.9635	9	0.25751	T	0.34	.	2.3432	0.04265	0.3496:0.3054:0.0:0.345	.	115;114	E9PB48;O75290	.;Z780A_HUMAN	Q	114;115;114	ENSP00000400997:E115Q;ENSP00000341507:E114Q	ENSP00000341507:E114Q	E	-	1	0	ZNF780A	45273849	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-1.863000	0.01651	-0.524000	0.06400	0.305000	0.20034	GAG		0.328	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		35	17	0	0	0	0	35	17				
GRIK5	2901	broad.mit.edu	37	19	42557775	42557775	+	Silent	SNP	G	G	A	rs371342969		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:42557775G>A	ENST00000262895.3	-	10	1247	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	GRIK5_ENST00000593562.1_Silent_p.T416T|GRIK5_ENST00000301218.4_Silent_p.T416T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	416					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TGACCACCAGGGTCTTGTTGG	0.622																																						uc002osj.1		NA																	0					0						c.(1246-1248)ACC>ACT		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)	G		1,4405	2.1+/-5.4	0,1,2202	113.0	89.0	97.0		1248	-11.0	0.0	19		97	0,8600		0,0,4300	no	coding-synonymous	GRIK5	NM_002088.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		416/981	42557775	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42557775G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1248C>T	19.37:g.42557775G>A						GRIK5_uc010eib.1_Silent_p.T335T	p.T416T	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			10	1283	-		Prostate(69;0.059)	416			Extracellular (Potential).		Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.1248C>T	CCDS12595.1																																																																																				0.622	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			11	32	0	0	0	0	11	32				
PSG8	440533	broad.mit.edu	37	19	43269720	43269720	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:43269720G>C	ENST00000306511.4	-	1	111	c.14C>G	c.(13-15)tCa>tGa	p.S5*	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Nonsense_Mutation_p.S5*|PSG8_ENST00000404209.4_Nonsense_Mutation_p.S5*	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	5						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGAGGGGCTGAGAGGAGCCC	0.592																																						uc002ouo.2		NA																	0					0						c.(13-15)TCA>TGA		pregnancy specific beta-1-glycoprotein 8 isoform							131.0	121.0	125.0					19																	43269720		1511	2709	4220	SO:0001587	stop_gained	440533					extracellular region		g.chr19:43269720G>C	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.14C>G	19.37:g.43269720G>C	ENSP00000305005:p.Ser5*					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_5'UTR|PSG8_uc002ouh.2_Nonsense_Mutation_p.S5*|PSG8_uc010ein.2_Nonsense_Mutation_p.S5*|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Intron|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	p.S5*	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			1	112	-		Prostate(69;0.00899)	5					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Nonsense_Mutation	SNP	ENST00000306511.4	37	c.14C>G	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	15.52	2.856719	0.51376	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000407488;ENST00000306511	.	.	.	1.35	0.266	0.15617	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.646	0.08186	0.2608:0.0:0.7392:0.0	.	.	.	.	X	5	.	ENSP00000305005:S5X	S	-	2	0	PSG8	47961560	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	0.097000	0.15168	0.143000	0.18926	0.184000	0.17185	TCA		0.592	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			18	62	0	0	0	0	18	62				
MARK4	57787	broad.mit.edu	37	19	45783855	45783855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:45783855C>T	ENST00000262891.4	+	12	1470	c.1139C>T	c.(1138-1140)cCa>cTa	p.P380L	MARK4_ENST00000300843.4_Missense_Mutation_p.P380L	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	380					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGGGCGCCCCAGGGCTGGCC	0.677																																						uc002pbb.1		NA																	0				central_nervous_system(2)|large_intestine(1)	3						c.(1138-1140)CCA>CTA		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							29.0	33.0	32.0					19																	45783855		2201	4298	6499	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45783855C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1139C>T	19.37:g.45783855C>T	ENSP00000262891:p.Pro380Leu					MARK4_uc002paz.1_3'UTR|MARK4_uc002pba.1_Missense_Mutation_p.P380L|MARK4_uc002pbc.1_Missense_Mutation_p.P246L	p.P380L			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	12	1144	+		all_neural(266;0.224)|Ovarian(192;0.231)	380					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.1139C>T	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187496	0.57909	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.71934	-0.55;-0.61	5.77	5.77	0.91146	.	0.132937	0.50627	D	0.000108	T	0.55721	0.1938	N	0.22421	0.69	0.49915	D	0.99983	B;P;B	0.34462	0.002;0.454;0.358	B;B;B	0.32677	0.005;0.15;0.12	T	0.58973	-0.7541	10	0.52906	T	0.07	.	10.8549	0.46794	0.0:0.9149:0.0:0.0851	.	246;380;380	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	L	380	ENSP00000262891:P380L;ENSP00000300843:P380L	ENSP00000262891:P380L	P	+	2	0	MARK4	50475695	0.021000	0.18746	1.000000	0.80357	0.988000	0.76386	1.166000	0.31834	2.744000	0.94065	0.561000	0.74099	CCA		0.677	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		11	49	0	0	0	0	11	49				
ZC3H4	23211	broad.mit.edu	37	19	47575952	47575952	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:47575952C>T	ENST00000253048.5	-	12	1496	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	487							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCACCTGCTTCTGCATCATCG	0.587																																						uc002pga.3		NA																	0				skin(4)|ovary(2)	6						c.(1459-1461)GAA>AAA		zinc finger CCCH-type containing 4							26.0	26.0	26.0					19																	47575952		2022	4164	6186	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47575952C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1459G>A	19.37:g.47575952C>T	ENSP00000253048:p.Glu487Lys					ZC3H4_uc002pgb.1_Intron	p.E487K	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	12	1497	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	487					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1459G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434013	0.43224	.	.	ENSG00000130749	ENST00000253048	T	0.36878	1.23	5.29	3.07	0.35406	.	0.289894	0.32273	N	0.006325	T	0.50786	0.1636	M	0.62723	1.935	0.58432	D	0.999998	D	0.69078	0.997	P	0.59012	0.85	T	0.54728	-0.8250	10	0.72032	D	0.01	.	13.1194	0.59316	0.2921:0.7079:0.0:0.0	.	487	Q9UPT8	ZC3H4_HUMAN	K	487	ENSP00000253048:E487K	ENSP00000253048:E487K	E	-	1	0	ZC3H4	52267792	1.000000	0.71417	0.008000	0.14137	0.180000	0.23129	7.522000	0.81844	0.727000	0.32360	0.650000	0.86243	GAA		0.587	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			8	15	0	0	0	0	8	15				
VRK3	51231	broad.mit.edu	37	19	50496192	50496192	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:50496192G>C	ENST00000599538.1	-	10	1552	c.888C>G	c.(886-888)ttC>ttG	p.F296L	VRK3_ENST00000316763.3_Missense_Mutation_p.F296L|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594948.1_Missense_Mutation_p.F296L|VRK3_ENST00000443401.2_Missense_Mutation_p.F65L|VRK3_ENST00000601341.1_Missense_Mutation_p.F246L|VRK3_ENST00000594092.1_Missense_Mutation_p.F296L|VRK3_ENST00000601912.1_Missense_Mutation_p.F246L|VRK3_ENST00000377011.2_Missense_Mutation_p.F246L|VRK3_ENST00000593919.1_Missense_Mutation_p.F296L			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	296	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCTCATGGAGGAACTCCAGGG	0.522																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	uc002prg.2		NA																	0				stomach(1)|skin(1)	2						c.(886-888)TTC>TTG		vaccinia related kinase 3 isoform 1							130.0	120.0	123.0					19																	50496192		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50496192G>C	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.888C>G	19.37:g.50496192G>C	ENSP00000469880:p.Phe296Leu					VRK3_uc002prh.1_Missense_Mutation_p.F296L|VRK3_uc002pri.1_Missense_Mutation_p.F246L|VRK3_uc010ens.2_Missense_Mutation_p.F296L|VRK3_uc010ybl.1_Missense_Mutation_p.F246L|VRK3_uc010ybm.1_Missense_Mutation_p.F65L|VRK3_uc002prj.1_Missense_Mutation_p.F246L|VRK3_uc002prk.1_Missense_Mutation_p.F296L|VRK3_uc010ent.1_Missense_Mutation_p.F52L|VRK3_uc002prl.2_Missense_Mutation_p.F296L|VRK3_uc010ybn.1_Missense_Mutation_p.S274C	p.F296L	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	10	986	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	296			Protein kinase.		A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.888C>G	CCDS12791.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.83|17.83	3.486293|3.486293	0.63962|0.63962	.|.	.|.	ENSG00000105053|ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000443401|ENST00000424804	T;T;T|.	0.67523|.	-0.27;-0.27;-0.27|.	5.05|5.05	1.78|1.78	0.24846|0.24846	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.473982|.	0.25214|.	N|.	0.032290|.	T|T	0.53769|0.53769	0.1817|0.1817	M|M	0.74647|0.74647	2.275|2.275	0.21967|0.21967	N|N	0.999446|0.999446	P;P;P;P|D	0.51147|0.69078	0.651;0.928;0.942;0.942|0.997	B;B;P;P|P	0.46975|0.56865	0.205;0.398;0.533;0.533|0.808	T|T	0.42050|0.42050	-0.9474|-0.9474	10|8	0.72032|0.87932	D|D	0.01|0	-13.1968|-13.1968	6.7519|6.7519	0.23491|0.23491	0.375:0.0:0.625:0.0|0.375:0.0:0.625:0.0	.|.	65;296;246;296|274	B4DGW1;Q8IV63-2;A6NEG5;Q8IV63|E7EMG6	.;.;.;VRK3_HUMAN|.	L|C	296;246;65|274	ENSP00000324636:F296L;ENSP00000366210:F246L;ENSP00000414907:F65L|.	ENSP00000324636:F296L|ENSP00000402958:S274C	F|S	-|-	3|2	2|0	VRK3|VRK3	55188004|55188004	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	0.720000|0.720000	0.25896|0.25896	0.402000|0.402000	0.25451|0.25451	0.655000|0.655000	0.94253|0.94253	TTC|TCC		0.522	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		33	94	0	0	0	0	33	94				
SIGLEC7	27036	broad.mit.edu	37	19	51649129	51649129	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:51649129A>C	ENST00000317643.6	+	4	847	c.778A>C	c.(778-780)Aac>Cac	p.N260H	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.N167H	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	260	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AGCTCTGGGGAACAGCTCATC	0.517																																						uc002pvv.1		NA																	0				large_intestine(1)	1						c.(778-780)AAC>CAC		sialic acid binding Ig-like lectin 7 isoform 1							158.0	156.0	157.0					19																	51649129		2203	4300	6503	SO:0001583	missense	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51649129A>C	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.778A>C	19.37:g.51649129A>C	ENSP00000323328:p.Asn260His					SIGLEC7_uc002pvw.1_Missense_Mutation_p.N167H|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	p.N260H	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	4	847	+		all_neural(266;0.0199)	260			Ig-like C2-type 2.|Extracellular (Potential).		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	c.778A>C	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	14.14	2.447387	0.43429	.	.	ENSG00000168995	ENST00000317643;ENST00000305628	T;T	0.18174	2.38;2.23	2.32	2.32	0.28847	Immunoglobulin-like (1);	0.000000	0.36628	U	0.002486	T	0.46502	0.1396	H	0.94658	3.565	0.21802	N	0.999537	D;D	0.89917	1.0;1.0	D;D	0.77557	0.94;0.99	T	0.34129	-0.9841	10	0.87932	D	0	.	6.5828	0.22605	1.0:0.0:0.0:0.0	.	167;260	Q9Y286-2;Q9Y286	.;SIGL7_HUMAN	H	260;167	ENSP00000323328:N260H;ENSP00000306757:N167H	ENSP00000306757:N167H	N	+	1	0	SIGLEC7	56340941	0.006000	0.16342	0.105000	0.21289	0.429000	0.31625	1.928000	0.40104	1.098000	0.41479	0.344000	0.21773	AAC		0.517	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		19	83	0	0	0	0	19	83				
KIR3DL2	3812	broad.mit.edu	37	19	55378031	55378031	+	Missense_Mutation	SNP	G	G	A	rs189906225		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:55378031G>A	ENST00000326321.3	+	9	1246	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V405I|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V388I|RNU6-222P_ENST00000362438.1_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	405					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGATCACTGCGTTTTCATACA	0.512													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20610	0.0		0.0	False		,,,				2504	0.0					uc002qhl.3		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1213-1215)GTT>ATT		SubName: Full=KIR3DS1;							278.0	266.0	270.0					19																	55378031		2203	4300	6503	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55378031G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1213G>A	19.37:g.55378031G>A	ENSP00000325525:p.Val405Ile					KIR3DL2_uc010esh.2_Missense_Mutation_p.V388I|KIR3DL2_uc002qho.3_Missense_Mutation_p.V405I	p.V405I			P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1276	+			405			Cytoplasmic (Potential).		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1213G>A	CCDS12906.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.075	0.382210	0.11524	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00470	7.23;7.22;7.2	1.41	-1.97	0.07503	.	.	.	.	.	T	0.00754	0.0025	L	0.51422	1.61	0.09310	N	1	B;D;D	0.65815	0.358;0.992;0.995	B;D;D	0.72338	0.153;0.949;0.977	T	0.49428	-0.8941	9	0.72032	D	0.01	.	4.4266	0.11505	0.5673:0.0:0.4327:0.0	.	388;405;405	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	I	405;405;388	ENSP00000384528:V405I;ENSP00000325525:V405I;ENSP00000270442:V388I	ENSP00000384528:V405I	V	+	1	0	KIR3DL1;KIR3DL2	60069843	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.341000	0.07811	-0.745000	0.04772	-0.515000	0.04445	GTT		0.512	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			56	135	0	0	0	0	56	135				
NLRP13	126204	broad.mit.edu	37	19	56413454	56413454	+	Silent	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:56413454G>C	ENST00000342929.3	-	9	2735	c.2736C>G	c.(2734-2736)gtC>gtG	p.V912V	NLRP13_ENST00000588751.1_Silent_p.V912V	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	912							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACAGGAACTTGACTCCCTCGT	0.552																																						uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2734-2736)GTC>GTG		NACHT, leucine rich repeat and PYD containing							144.0	106.0	119.0					19																	56413454		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56413454G>C	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2736C>G	19.37:g.56413454G>C							p.V912V	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	9	2761	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	912			LRR 4.		Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2736C>G	CCDS33119.1																																																																																				0.552	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		14	57	0	0	0	0	14	57				
NLRP8	126205	broad.mit.edu	37	19	56481960	56481960	+	Missense_Mutation	SNP	A	A	C	rs143689901		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:56481960A>C	ENST00000291971.3	+	6	2503	c.2432A>C	c.(2431-2433)aAt>aCt	p.N811T	NLRP8_ENST00000590542.1_Missense_Mutation_p.N811T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	811					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTGGCAATAATCTTCAAGGT	0.483																																						uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2431-2433)AAT>ACT		NLR family, pyrin domain containing 8							163.0	158.0	160.0					19																	56481960		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56481960A>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2432A>C	19.37:g.56481960A>C	ENSP00000291971:p.Asn811Thr					NLRP8_uc010etg.2_Missense_Mutation_p.N811T	p.N811T	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	6	2503	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	811					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2432A>C	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	0.083	-1.180790	0.01633	.	.	ENSG00000179709	ENST00000291971	T	0.52057	0.68	1.93	-1.75	0.08031	.	.	.	.	.	T	0.16599	0.0399	N	0.04090	-0.28	0.09310	N	1	B;B	0.30406	0.278;0.011	B;B	0.22880	0.042;0.002	T	0.15549	-1.0433	9	0.17832	T	0.49	.	2.1515	0.03801	0.3988:0.0:0.3477:0.2535	.	811;811	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	811	ENSP00000291971:N811T	ENSP00000291971:N811T	N	+	2	0	NLRP8	61173772	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.014000	0.12656	-0.600000	0.05790	0.421000	0.28195	AAT		0.483	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		23	177	0	0	0	0	23	177				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2		NA																	10	Substitution - Missense(10)		urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)		0						c.(1210-1212)GAC>GAA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	10	1	0	0.00909568	0.00929275	3	10				
RSAD2	91543	broad.mit.edu	37	2	7018158	7018158	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:7018158A>G	ENST00000382040.3	+	1	363	c.227A>G	c.(226-228)aAc>aGc	p.N76S	RSAD2_ENST00000541728.1_5'Flank	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ACCAGCGTCAACTATCACTTC	0.542																																						uc002qyp.1		NA																	0					0						c.(226-228)AAC>AGC		radical S-adenosyl methionine domain containing							153.0	129.0	137.0					2																	7018158		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7018158A>G	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.227A>G	2.37:g.7018158A>G	ENSP00000371471:p.Asn76Ser						p.N76S	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	1	363	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		76						Missense_Mutation	SNP	ENST00000382040.3	37	c.227A>G	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719115	0.89205	.	.	ENSG00000134321	ENST00000382040	D	0.91945	-2.94	5.51	5.51	0.81932	Elongator protein 3/MiaB/NifB (1);	0.079753	0.85682	D	0.000000	D	0.95277	0.8468	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94827	0.7992	10	0.42905	T	0.14	-50.7886	15.9261	0.79618	1.0:0.0:0.0:0.0	.	76	Q8WXG1	RSAD2_HUMAN	S	76	ENSP00000371471:N76S	ENSP00000371471:N76S	N	+	2	0	RSAD2	6935609	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.162000	0.89657	2.231000	0.72958	0.455000	0.32223	AAC		0.542	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		23	41	0	0	0	0	23	41				
ZNF513	130557	broad.mit.edu	37	2	27600461	27600461	+	Missense_Mutation	SNP	G	G	T	rs376865509		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:27600461G>T	ENST00000323703.6	-	4	1775	c.1577C>A	c.(1576-1578)cCa>cAa	p.P526Q	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_Missense_Mutation_p.P464Q	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	526					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCAGGGCTGGTGGGCCCCG	0.622																																						uc002rkk.2		NA																	0				ovary(1)	1						c.(1576-1578)CCA>CAA		zinc finger protein 513							38.0	42.0	41.0					2																	27600461		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600461G>T	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1577C>A	2.37:g.27600461G>T	ENSP00000318373:p.Pro526Gln					ZNF513_uc002rkj.2_Missense_Mutation_p.P464Q	p.P526Q	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			4	1777	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		526					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.1577C>A	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507068	0.27036	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.06142	3.4;3.34	4.61	4.61	0.57282	.	0.607858	0.14668	N	0.305575	T	0.05090	0.0136	N	0.08118	0	0.28725	N	0.902816	B	0.19445	0.036	B	0.23018	0.043	T	0.27088	-1.0084	10	0.59425	D	0.04	7.2603	16.1523	0.81632	0.0:0.0:1.0:0.0	.	526	Q8N8E2	ZN513_HUMAN	Q	526;464	ENSP00000318373:P526Q;ENSP00000384874:P464Q	ENSP00000318373:P526Q	P	-	2	0	ZNF513	27453965	0.994000	0.37717	0.761000	0.31378	0.948000	0.59901	5.704000	0.68347	2.388000	0.81334	0.561000	0.74099	CCA		0.622	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		32	61	1	0	6.91e-12	7.64e-12	32	61				
NDUFAF7	55471	broad.mit.edu	37	2	37459318	37459318	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:37459318C>G	ENST00000002125.4	+	2	165	c.125C>G	c.(124-126)cCg>cGg	p.P42R	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.P42R|CEBPZ_ENST00000234170.5_5'Flank|NDUFAF7_ENST00000483999.1_Intron	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	42					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										CCGGTGACGCCGATGCTGCGG	0.478																																						uc002rqa.3		NA																	0				central_nervous_system(1)	1						c.(124-126)CCG>CGG		hypothetical protein LOC55471 isoform 1							113.0	106.0	108.0					2																	37459318		2203	4300	6503	SO:0001583	missense	55471				mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity	g.chr2:37459318C>G		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.125C>G	2.37:g.37459318C>G	ENSP00000002125:p.Pro42Arg					CEBPZ_uc002rpz.2_5'Flank|C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.P42R|C2orf56_uc010ynk.1_Missense_Mutation_p.P42R|C2orf56_uc010ynl.1_Missense_Mutation_p.P42R	p.P42R	NM_144736	NP_653337	Q7L592	MIDA_HUMAN			2	200	+		all_hematologic(82;0.21)	42					Q7Z399|Q9P1G3	Missense_Mutation	SNP	ENST00000002125.4	37	c.125C>G	CCDS1788.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503605	0.44558	.	.	ENSG00000003509	ENST00000002125;ENST00000336237	T;T	0.76709	-1.04;-1.04	5.51	5.51	0.81932	.	0.252724	0.41294	D	0.000908	D	0.82282	0.5003	L	0.51853	1.615	0.09310	N	1	B;P;D;B	0.53462	0.032;0.933;0.96;0.032	B;P;P;B	0.55999	0.013;0.619;0.789;0.017	T	0.76334	-0.2997	10	0.56958	D	0.05	-13.1824	16.4563	0.84015	0.0:0.8691:0.1309:0.0	.	42;42;42;42	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	R	42	ENSP00000002125:P42R;ENSP00000337431:P42R	ENSP00000002125:P42R	P	+	2	0	C2orf56	37312822	0.453000	0.25721	0.428000	0.26697	0.981000	0.71138	3.742000	0.55097	2.586000	0.87340	0.557000	0.71058	CCG		0.478	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		6	111	0	0	0	0	6	111				
THADA	63892	broad.mit.edu	37	2	43808911	43808911	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:43808911C>T	ENST00000405006.4	-	8	1041	c.690G>A	c.(688-690)ttG>ttA	p.L230L	THADA_ENST00000402360.2_Silent_p.L230L|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Silent_p.L230L|THADA_ENST00000403856.1_Silent_p.L230L|THADA_ENST00000405975.2_Silent_p.L230L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	230										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AAATACTCAGCAATCCACACA	0.328																																						uc002rsw.3		NA																	0				ovary(2)|skin(1)	3						c.(688-690)TTG>TTA		thyroid adenoma associated							95.0	90.0	91.0					2																	43808911		1814	4071	5885	SO:0001819	synonymous_variant	63892						binding	g.chr2:43808911C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.690G>A	2.37:g.43808911C>T						THADA_uc002rsx.3_Silent_p.L230L|THADA_uc002rsy.3_RNA|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Silent_p.L230L|THADA_uc002rtc.3_Silent_p.L230L|THADA_uc002rtd.2_Silent_p.L230L	p.L230L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			8	1042	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	230					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.690G>A	CCDS46268.1																																																																																				0.328	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		8	72	0	0	0	0	8	72				
TTC7A	57217	broad.mit.edu	37	2	47278982	47278983	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:47278982_47278983GC>TT	ENST00000319190.5	+	18	2483_2484	c.2115_2116GC>TT	c.(2113-2118)caGCtg>caTTtg	p.Q705H	TTC7A_ENST00000263737.6_Missense_Mutation_p.Q351H|TTC7A_ENST00000409245.1_Missense_Mutation_p.Q671H|TTC7A_ENST00000394850.2_Missense_Mutation_p.Q729H	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	705					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCCCCATGCAGCTGTGGACCAC	0.658																																						uc002rvo.2		NA																	0				breast(1)|skin(1)	2						c.(2113-2118)CAGCTG>CATTTG		tetratricopeptide repeat domain 7A																																				SO:0001583	missense	57217						binding	g.chr2:47278982_47278983GC>TT	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	Exception_encountered	2.37:g.47278982_47278983delinsTT	ENSP00000316699:p.Gln705His					TTC7A_uc002rvm.2_Missense_Mutation_p.Q671H|TTC7A_uc010fbb.2_Missense_Mutation_p.Q729H|TTC7A_uc010fbc.2_Missense_Mutation_p.Q351H|TTC7A_uc002rvp.2_Missense_Mutation_p.Q586H|TTC7A_uc002rvq.2_Missense_Mutation_p.Q445H|TTC7A_uc002rvr.2_Missense_Mutation_p.Q154H	p.Q705H	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		18	2483_2484	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	705					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	DNP	ENST00000319190.5	37	c.2115_2116GC>TT	CCDS33193.1																																																																																				0.658	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		18	15	0	0	0	0	18	15				
PTCD3	55037	broad.mit.edu	37	2	86361419	86361419	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:86361419T>G	ENST00000254630.7	+	20	1614	c.1548T>G	c.(1546-1548)agT>agG	p.S516R	SNORD94_ENST00000386037.1_RNA	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	516					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTCAAGATAGTAAAGAATATG	0.408																																						uc002sqw.2		NA																	0				ovary(1)	1						c.(1546-1548)AGT>AGG		pentatricopeptide repeat domain 3 precursor							90.0	76.0	81.0					2																	86361419		2203	4300	6503	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86361419T>G		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1548T>G	2.37:g.86361419T>G	ENSP00000254630:p.Ser516Arg					PTCD3_uc002sqx.1_Missense_Mutation_p.S106R|SNORD94_uc010fgr.1_5'Flank	p.S516R	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN			20	1614	+			516			PPR 9.		A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.1548T>G	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607989	0.66558	.	.	ENSG00000132300	ENST00000254630	T	0.32023	1.47	5.9	3.58	0.41010	.	0.326345	0.40385	N	0.001108	T	0.43389	0.1245	M	0.75447	2.3	0.80722	D	1	D;D	0.67145	0.996;0.988	P;P	0.62184	0.899;0.675	T	0.48937	-0.8990	10	0.87932	D	0	-9.9981	0.3909	0.00410	0.1813:0.2465:0.1893:0.3829	.	107;516	Q96EY7-2;Q96EY7	.;PTCD3_HUMAN	R	516	ENSP00000254630:S516R	ENSP00000254630:S516R	S	+	3	2	PTCD3	86214930	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	0.729000	0.26028	1.066000	0.40716	0.528000	0.53228	AGT		0.408	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		12	26	0	0	0	0	12	26				
SLC5A7	60482	broad.mit.edu	37	2	108626801	108626801	+	Silent	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:108626801T>C	ENST00000264047.2	+	9	1503	c.1227T>C	c.(1225-1227)agT>agC	p.S409S	SLC5A7_ENST00000409059.1_Silent_p.S409S|SLC5A7_ENST00000540517.1_Silent_p.S304S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	409					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGTACCTCAGTTCTGACCTTG	0.483																																						uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1225-1227)AGT>AGC		solute carrier family 5 (choline transporter),	Choline(DB00122)						281.0	219.0	240.0					2																	108626801		2203	4300	6503	SO:0001819	synonymous_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626801T>C	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1227T>C	2.37:g.108626801T>C						SLC5A7_uc010ywm.1_Silent_p.S162S|SLC5A7_uc010fjj.2_Silent_p.S409S|SLC5A7_uc010ywn.1_Silent_p.S296S	p.S409S	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1503	+			409			Helical; (Potential).		Q53TF2	Silent	SNP	ENST00000264047.2	37	c.1227T>C	CCDS2074.1																																																																																				0.483	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			28	40	0	0	0	0	28	40				
MARCO	8685	broad.mit.edu	37	2	119727757	119727757	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:119727757G>C	ENST00000327097.4	+	3	402	c.267G>C	c.(265-267)gaG>gaC	p.E89D	MARCO_ENST00000541757.1_Missense_Mutation_p.E11D	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	89					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGGCGGCTGAGGACAGCCCGT	0.607																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(265-267)GAG>GAC		macrophage receptor with collagenous structure							80.0	80.0	80.0					2																	119727757		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119727757G>C	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.267G>C	2.37:g.119727757G>C	ENSP00000318916:p.Glu89Asp					MARCO_uc010yyf.1_Missense_Mutation_p.E11D	p.E89D	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			3	399	+			89			Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.267G>C	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886403	0.33348	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757;ENST00000412481	D;D	0.90732	-2.68;-2.72	4.22	1.24	0.21308	.	0.713054	0.13091	N	0.414549	T	0.81978	0.4937	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.65763	-0.6089	9	.	.	.	.	7.4116	0.27021	0.0:0.353:0.4651:0.1819	.	89	Q9UEW3	MARCO_HUMAN	D	89;89;11;11	ENSP00000318916:E89D;ENSP00000441769:E11D	.	E	+	3	2	MARCO	119444227	0.018000	0.18449	0.173000	0.22940	0.044000	0.14063	0.448000	0.21726	0.265000	0.21872	0.561000	0.74099	GAG		0.607	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		22	32	0	0	0	0	22	32				
GLI2	2736	broad.mit.edu	37	2	121732650	121732650	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:121732650A>G	ENST00000452319.1	+	9	1393	c.1333A>G	c.(1333-1335)Acc>Gcc	p.T445A	GLI2_ENST00000314490.11_Missense_Mutation_p.T117A|GLI2_ENST00000361492.4_Missense_Mutation_p.T445A|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGAAGACTGCACCAAGGAGTA	0.597																																						uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(1333-1335)ACC>GCC		GLI-Kruppel family member GLI2							70.0	65.0	66.0					2																	121732650		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121732650A>G		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1333A>G	2.37:g.121732650A>G	ENSP00000390436:p.Thr445Ala					GLI2_uc002tmq.1_Missense_Mutation_p.T117A|GLI2_uc002tmr.1_Missense_Mutation_p.T100A|GLI2_uc002tmt.3_Missense_Mutation_p.T117A|GLI2_uc002tmu.3_Missense_Mutation_p.T100A|GLI2_uc010flo.1_Missense_Mutation_p.T303A|GLI2_uc002tmw.1_Missense_Mutation_p.T428A	p.T445A	NM_005270	NP_005261	P10070	GLI2_HUMAN			8	1363	+	Renal(3;0.0496)	Prostate(154;0.0623)	445			C2H2-type 1.			Missense_Mutation	SNP	ENST00000452319.1	37	c.1333A>G	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.619779	0.28801	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.91124	-2.79;-2.79;-2.79	5.2	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.528278	0.20381	N	0.093441	T	0.75838	0.3904	N	0.12746	0.255	0.29169	N	0.877284	B;B;B;B;B	0.10296	0.003;0.0;0.002;0.001;0.001	B;B;B;B;B	0.12156	0.002;0.0;0.003;0.007;0.007	T	0.61997	-0.6947	10	0.30854	T	0.27	.	1.1753	0.01834	0.4731:0.1401:0.1148:0.272	.	445;428;100;100;117	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	A	445;445;117	ENSP00000390436:T445A;ENSP00000354586:T445A;ENSP00000312694:T117A	ENSP00000312694:T117A	T	+	1	0	GLI2	121449120	0.013000	0.17824	0.998000	0.56505	0.996000	0.88848	0.495000	0.22483	0.394000	0.25230	0.533000	0.62120	ACC		0.597	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		9	50	0	0	0	0	9	50				
LRP1B	53353	broad.mit.edu	37	2	141598641	141598641	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:141598641G>A	ENST00000389484.3	-	30	5931	c.4960C>T	c.(4960-4962)Cta>Tta	p.L1654L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1654					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCACTGCTAGCCCTCTGATA	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4960-4962)CTA>TTA		low density lipoprotein-related protein 1B							107.0	104.0	105.0					2																	141598641		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141598641G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4960C>T	2.37:g.141598641G>A		TSP Lung(27;0.18)					p.L1654L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	30	5932	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1654			Extracellular (Potential).|LDL-receptor class B 14.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.4960C>T	CCDS2182.1																																																																																				0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		27	45	0	0	0	0	27	45				
GALNT5	11227	broad.mit.edu	37	2	158157196	158157196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:158157196G>A	ENST00000259056.4	+	7	2609	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	708	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGGTGTGGATGTGTGGTGGTG	0.428																																						uc002tzg.2		NA																	0				breast(3)|skin(1)	4						c.(2122-2124)ATG>ATA		N-acetylgalactosaminyltransferase 5							138.0	137.0	137.0					2																	158157196		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158157196G>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2124G>A	2.37:g.158157196G>A	ENSP00000259056:p.Met708Ile					GALNT5_uc010zci.1_RNA	p.M708I	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			7	2379	+			708			Catalytic subdomain B.|Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.2124G>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797352	0.90538	.	.	ENSG00000136542	ENST00000259056	T	0.66280	-0.2	5.39	5.39	0.77823	.	0.039494	0.85682	D	0.000000	T	0.81828	0.4905	M	0.89095	3.005	0.58432	D	0.999997	D	0.67145	0.996	P	0.62740	0.906	D	0.85544	0.1217	10	0.87932	D	0	.	18.7432	0.91782	0.0:0.0:1.0:0.0	.	708	Q7Z7M9	GALT5_HUMAN	I	708	ENSP00000259056:M708I	ENSP00000259056:M708I	M	+	3	0	GALNT5	157865442	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.869000	0.99810	2.521000	0.84997	0.563000	0.77884	ATG		0.428	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		9	65	0	0	0	0	9	65				
BAZ2B	29994	broad.mit.edu	37	2	160206345	160206345	+	Silent	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:160206345T>C	ENST00000392783.2	-	28	5232	c.4737A>G	c.(4735-4737)tcA>tcG	p.S1579S	BAZ2B_ENST00000392782.1_Silent_p.S1543S|BAZ2B_ENST00000355831.2_Silent_p.S1545S|BAZ2B_ENST00000343439.5_Silent_p.S1479S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAGAAGCAGTTGACATATCGG	0.453																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(4735-4737)TCA>TCG		bromodomain adjacent to zinc finger domain, 2B							171.0	169.0	170.0					2																	160206345		2113	4239	6352	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160206345T>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4737A>G	2.37:g.160206345T>C						BAZ2B_uc002uap.2_Silent_p.S1543S	p.S1579S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			28	5089	-			1579					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.4737A>G	CCDS2209.2																																																																																				0.453	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			46	75	0	0	0	0	46	75				
CDCA7	83879	broad.mit.edu	37	2	174229611	174229611	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:174229611G>T	ENST00000347703.3	+	5	695	c.551G>T	c.(550-552)aGg>aTg	p.R184M	CDCA7_ENST00000306721.3_Missense_Mutation_p.R263M|CDCA7_ENST00000410101.3_Missense_Mutation_p.R219M|CDCA7_ENST00000410019.3_Missense_Mutation_p.R142M|CDCA7_ENST00000392567.2_Missense_Mutation_p.R184M	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	184	Arg-rich.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ACCAGGTCAAGGTCCCGGATC	0.547																																						uc002uid.1		NA																	0				ovary(1)	1						c.(550-552)AGG>ATG		cell division cycle associated 7 isoform 2							66.0	63.0	64.0					2																	174229611		2203	4300	6503	SO:0001583	missense	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174229611G>T	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.551G>T	2.37:g.174229611G>T	ENSP00000272789:p.Arg184Met					CDCA7_uc002uic.1_Missense_Mutation_p.R263M|CDCA7_uc010zej.1_Missense_Mutation_p.R219M|CDCA7_uc010zek.1_Missense_Mutation_p.R142M	p.R184M	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		5	682	+			184			Arg-rich.		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	c.551G>T	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849669	0.91277	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.47177	0.88;0.85;0.89;0.86;0.89	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	L	0.56396	1.775	0.54753	D	0.999983	P;P;P;P	0.45044	0.616;0.616;0.616;0.849	B;B;B;P	0.44623	0.1;0.268;0.1;0.455	T	0.55661	-0.8106	10	0.54805	T	0.06	-21.0538	19.8182	0.96579	0.0:0.0:1.0:0.0	.	142;219;184;263	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	M	184;184;263;219;142	ENSP00000272789:R184M;ENSP00000376348:R184M;ENSP00000306968:R263M;ENSP00000386656:R219M;ENSP00000386833:R142M	ENSP00000306968:R263M	R	+	2	0	CDCA7	173937857	1.000000	0.71417	0.979000	0.43373	0.930000	0.56654	6.603000	0.74145	2.687000	0.91594	0.563000	0.77884	AGG		0.547	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		10	42	1	0	1.77e-08	1.91e-08	10	42				
TTN	7273	broad.mit.edu	37	2	179430407	179430407	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:179430407C>T	ENST00000591111.1	-	276	75753	c.75529G>A	c.(75529-75531)Gaa>Aaa	p.E25177K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17945K|TTN_ENST00000342992.6_Missense_Mutation_p.E24250K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17753K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17878K|TTN_ENST00000589042.1_Missense_Mutation_p.E26818K|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25177	Fibronectin type-III 83. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			GGCTGCATTTCAACAACGTAC	0.453																																						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.(72748-72750)GAA>AAA		titin isoform N2-A							180.0	173.0	175.0					2																	179430407		1976	4172	6148	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430407C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75529G>A	2.37:g.179430407C>T	ENSP00000465570:p.Glu25177Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E17945K|TTN_uc010zfi.1_Missense_Mutation_p.E17878K|TTN_uc010zfj.1_Missense_Mutation_p.E17753K	p.E24250K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72972	-			25177					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72748G>A		.	.	.	.	.	.	.	.	.	.	C	16.61	3.172014	0.57584	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81168	0.4766	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.85476	0.1176	9	0.87932	D	0	.	19.8583	0.96775	0.0:1.0:0.0:0.0	.	17753;17878;17945;25177	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	24250;17753;17945;17878;17751	ENSP00000343764:E24250K;ENSP00000434586:E17753K;ENSP00000340554:E17945K;ENSP00000352154:E17878K	ENSP00000340554:E17945K	E	-	1	0	TTN	179138653	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.704000	0.92352	0.484000	0.47621	GAA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	131	0	0	0	0	21	131				
TTN	7273	broad.mit.edu	37	2	179482556	179482556	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:179482556A>T	ENST00000591111.1	-	203	42823	c.42599T>A	c.(42598-42600)gTt>gAt	p.V14200D	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6968D|TTN_ENST00000342992.6_Missense_Mutation_p.V13273D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V6776D|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V6901D|TTN_ENST00000589042.1_Missense_Mutation_p.V15841D|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14200	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TGGTTTTCCAACTCCAATTCG	0.443																																						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.(39817-39819)GTT>GAT		titin isoform N2-A							157.0	148.0	151.0					2																	179482556		1959	4160	6119	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482556A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42599T>A	2.37:g.179482556A>T	ENSP00000465570:p.Val14200Asp					TTN_uc010zfh.1_Missense_Mutation_p.V6968D|TTN_uc010zfi.1_Missense_Mutation_p.V6901D|TTN_uc010zfj.1_Missense_Mutation_p.V6776D	p.V13273D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		202	40042	-			14200					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39818T>A		.	.	.	.	.	.	.	.	.	.	A	11.61	1.689237	0.29962	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58119	0.2100	L	0.54908	1.71	0.58432	D	0.999999	B;B;B;B	0.31611	0.331;0.331;0.331;0.331	B;B;B;B	0.41236	0.351;0.351;0.351;0.351	T	0.61407	-0.7069	9	0.87932	D	0	.	16.1485	0.81594	1.0:0.0:0.0:0.0	.	6776;6901;6968;14200	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	13273;6776;6968;6901;6776	ENSP00000343764:V13273D;ENSP00000434586:V6776D;ENSP00000340554:V6968D;ENSP00000352154:V6901D	ENSP00000340554:V6968D	V	-	2	0	TTN	179190801	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	4.097000	0.57741	2.281000	0.76405	0.533000	0.62120	GTT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	75	0	0	0	0	45	75				
ZNF385B	151126	broad.mit.edu	37	2	180348156	180348156	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:180348156C>A	ENST00000410066.1	-	6	1116	c.513G>T	c.(511-513)caG>caT	p.Q171H	ZNF385B_ENST00000336917.5_Missense_Mutation_p.Q69H|ZNF385B_ENST00000409343.1_Missense_Mutation_p.Q95H|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.Q69H	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	171	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GGGCCTCGGCCTGGCTCTACA	0.428																																					Colon(155;204 2491 32774 51842)	uc002unn.3		NA																	0				ovary(1)	1						c.(511-513)CAG>CAT		zinc finger protein 385B isoform 1							184.0	167.0	173.0					2																	180348156		2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180348156C>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.513G>T	2.37:g.180348156C>A	ENSP00000386845:p.Gln171His					ZNF385B_uc002unj.2_Missense_Mutation_p.Q69H|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.Q68H|ZNF385B_uc002unm.2_Missense_Mutation_p.Q95H	p.Q171H	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		6	1117	-			171			Matrin-type 2.		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.513G>T	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033783	0.75504	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304;ENST00000439340	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	T	0.45338	-0.9268	10	0.87932	D	0	-16.5257	13.778	0.63066	0.0:0.9304:0.0:0.0696	.	171;95	Q569K4;Q569K4-2	Z385B_HUMAN;.	H	171;69;95;69;69;102	ENSP00000386845:Q171H;ENSP00000338225:Q69H;ENSP00000386379:Q95H;ENSP00000386507:Q69H;ENSP00000394038:Q69H;ENSP00000399198:Q102H	ENSP00000338225:Q69H	Q	-	3	2	ZNF385B	180056401	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.949000	0.49074	2.871000	0.98454	0.655000	0.94253	CAG		0.428	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		30	34	1	0	2.81e-11	3.08e-11	30	34				
STAT1	6772	broad.mit.edu	37	2	191872313	191872313	+	Silent	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:191872313C>A	ENST00000361099.3	-	5	735	c.348G>T	c.(346-348)ctG>ctT	p.L116L	STAT1_ENST00000392322.3_Silent_p.L116L|STAT1_ENST00000392323.2_Silent_p.L118L|STAT1_ENST00000409465.1_Silent_p.L116L|STAT1_ENST00000540176.1_Silent_p.L116L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	116					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GGGCGTTTTCCAGAATTTTCC	0.328																																						uc002usj.2		NA																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(346-348)CTG>CTT		signal transducer and activator of transcription	Fludarabine(DB01073)						84.0	90.0	88.0					2																	191872313		2203	4296	6499	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191872313C>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.348G>T	2.37:g.191872313C>A						STAT1_uc010fse.1_Silent_p.L116L|STAT1_uc002usk.2_Silent_p.L116L|STAT1_uc002usl.2_Silent_p.L118L|STAT1_uc010fsf.1_5'UTR	p.L116L	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		5	736	-			116					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.348G>T	CCDS2309.1																																																																																				0.328	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		38	44	1	0	2.19e-23	2.49e-23	38	44				
RAPH1	65059	broad.mit.edu	37	2	204306102	204306102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:204306102G>A	ENST00000319170.5	-	14	2110	c.1811C>T	c.(1810-1812)tCa>tTa	p.S604L	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.S656L|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	604					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGCACAAGTGAAGTGTAGGG	0.502																																						uc002vad.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(1810-1812)TCA>TTA		Ras association and pleckstrin homology domains							30.0	34.0	33.0					2																	204306102		1765	3463	5228	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204306102G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1811C>T	2.37:g.204306102G>A	ENSP00000316543:p.Ser604Leu						p.S604L	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			14	2036	-			604					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.1811C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486154	0.26686	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.26373	1.74;1.74	3.02	3.02	0.34903	.	2.148120	0.03284	U	0.186588	T	0.35068	0.0919	N	0.14661	0.345	0.41937	D	0.990598	D	0.54601	0.967	P	0.60789	0.879	T	0.33240	-0.9876	10	0.45353	T	0.12	0.3265	13.4277	0.61035	0.0:0.0:1.0:0.0	.	604	Q70E73	RAPH1_HUMAN	L	604;656	ENSP00000316543:S604L;ENSP00000363617:S656L	ENSP00000316543:S604L	S	-	2	0	RAPH1	204014347	0.485000	0.25972	0.997000	0.53966	0.996000	0.88848	2.003000	0.40844	2.008000	0.58898	0.479000	0.44913	TCA		0.502	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		4	17	0	0	0	0	4	17				
SPEG	10290	broad.mit.edu	37	2	220309817	220309817	+	Missense_Mutation	SNP	C	C	T	rs372300281		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:220309817C>T	ENST00000312358.7	+	3	881	c.749C>T	c.(748-750)tCc>tTc	p.S250F	SPEG_ENST00000396695.2_Intron|SPEG_ENST00000396698.1_Missense_Mutation_p.S146F	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	250					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GATAGCCTTTCCGTGGCCAGT	0.652																																						uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(748-750)TCC>TTC		SPEG complex locus		C	PHE/SER	0,4216		0,0,2108	14.0	18.0	17.0		749	4.6	1.0	2		17	1,8445		0,1,4222	no	missense	SPEG	NM_005876.4	155	0,1,6330	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	250/3268	220309817	1,12661	2108	4223	6331	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309817C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.749C>T	2.37:g.220309817C>T	ENSP00000311684:p.Ser250Phe					SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Intron|SPEG_uc002vln.1_5'UTR	p.S250F	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	3	749	+		Renal(207;0.0183)	250					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.749C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482069	0.63849	0.0	1.18E-4	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698	T;T	0.70164	-0.46;-0.29	4.58	4.58	0.56647	.	0.000000	0.32836	U	0.005584	T	0.71492	0.3346	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.77413	-0.2597	10	0.87932	D	0	.	17.3905	0.87430	0.0:1.0:0.0:0.0	.	250	Q15772	SPEG_HUMAN	F	250;250;146	ENSP00000311684:S250F;ENSP00000379926:S146F	ENSP00000265327:S250F	S	+	2	0	SPEG	220018061	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.477000	0.60223	2.084000	0.62774	0.442000	0.29010	TCC		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		4	8	0	0	0	0	4	8				
NYAP2	57624	broad.mit.edu	37	2	226446903	226446903	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:226446903G>A	ENST00000272907.6	+	4	1183	c.770G>A	c.(769-771)aGg>aAg	p.R257K	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	257					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGAGACTTCAGGAAGGAGGAC	0.577																																						uc002voe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(769-771)AGG>AAG		hypothetical protein LOC57624							127.0	134.0	131.0					2																	226446903		2018	4176	6194	SO:0001583	missense	57624							g.chr2:226446903G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.770G>A	2.37:g.226446903G>A	ENSP00000272907:p.Arg257Lys					KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.R27K	p.R257K	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	945	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	257					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.770G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	3.553	-0.091205	0.07053	.	.	ENSG00000144460	ENST00000272907	T	0.41400	1.0	5.94	4.89	0.63831	.	0.309243	0.31554	N	0.007449	T	0.18257	0.0438	N	0.11201	0.11	0.21527	N	0.999654	B	0.06786	0.001	B	0.08055	0.003	T	0.29640	-1.0005	10	0.06494	T	0.89	-27.9133	6.8931	0.24241	0.2373:0.0:0.7627:0.0	.	257	Q9P242	K1486_HUMAN	K	257	ENSP00000272907:R257K	ENSP00000272907:R257K	R	+	2	0	KIAA1486	226155147	1.000000	0.71417	0.126000	0.21872	0.981000	0.71138	3.041000	0.49807	2.820000	0.97059	0.650000	0.86243	AGG		0.577	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		50	69	0	0	0	0	50	69				
COL4A3	1285	broad.mit.edu	37	2	228131135	228131135	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:228131135G>A	ENST00000396578.3	+	22	1480	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	440	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTTATAGGTGACATCGTTTT	0.393																																						uc002vom.1		NA																	0				skin(2)|ovary(1)	3						c.(1318-1320)GAC>AAC		alpha 3 type IV collagen isoform 1 precursor							71.0	66.0	67.0					2																	228131135		1826	4082	5908	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228131135G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1318G>A	2.37:g.228131135G>A	ENSP00000379823:p.Asp440Asn					COL4A3_uc002von.1_Missense_Mutation_p.D440N|COL4A3_uc002voo.1_Missense_Mutation_p.D440N|COL4A3_uc002vop.1_Missense_Mutation_p.D440N|uc002voq.1_Intron|uc002vor.1_Intron	p.D440N	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	22	1480	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	440			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.1318G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	5.609	0.297145	0.10622	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93488	-3.23	5.69	1.16	0.20824	.	0.946141	0.08847	N	0.885052	D	0.83133	0.5188	N	0.16130	0.375	0.34926	D	0.748909	B;B;B;B	0.30634	0.244;0.244;0.244;0.288	B;B;B;B	0.30105	0.041;0.041;0.067;0.111	T	0.77520	-0.2557	10	0.15499	T	0.54	.	3.7278	0.08481	0.3382:0.1825:0.4794:0.0	.	440;440;440;440	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	N	440	ENSP00000379823:D440N	ENSP00000323334:D440N	D	+	1	0	COL4A3	227839379	0.020000	0.18652	0.812000	0.32479	0.052000	0.14988	-0.122000	0.10627	0.765000	0.33221	0.655000	0.94253	GAC		0.393	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		3	33	0	0	0	0	3	33				
EIF4E2	9470	broad.mit.edu	37	2	233431923	233431923	+	Splice_Site	SNP	A	A	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:233431923A>G	ENST00000258416.3	+	6	1337	c.664A>G	c.(664-666)Aaa>Gaa	p.K222E	EIF4E2_ENST00000409394.1_Splice_Site_p.K177E|EIF4E2_ENST00000409167.3_Missense_Mutation_p.K177E|EIF4E2_ENST00000409495.1_Missense_Mutation_p.K222E|EIF4E2_ENST00000409322.1_Splice_Site_p.K177E|EIF4E2_ENST00000409514.1_Splice_Site_p.K222E|EIF4E2_ENST00000409098.1_Splice_Site_p.K222E	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	222	7-methylguanosine-containing mRNA cap binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CGACAGCATCAAGTACGTGTT	0.507																																						uc002vta.2		NA																	0					0						c.(664-666)AAA>GAA		eukaryotic translation initiation factor 4E							122.0	105.0	111.0					2																	233431923		2203	4300	6503	SO:0001630	splice_region_variant	9470				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding	g.chr2:233431923A>G	AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.665+1A>G	2.37:g.233431923A>G						EIF4E2_uc002vtb.1_Missense_Mutation_p.K222E|EIF4E2_uc010zmi.1_Missense_Mutation_p.K177E	p.K222E	NM_004846	NP_004837	O60573	IF4E2_HUMAN		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	6	742	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	222			7-methylguanosine-containing mRNA cap binding (By similarity).		B8ZZJ9|O75349	Missense_Mutation	SNP	ENST00000258416.3	37	c.664A>G	CCDS2496.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930816	0.73327	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000409167;ENST00000409322;ENST00000409394	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.54	5.54	0.83059	Translation Initiation factor eIF- 4e-like  domain (2);	0.100971	0.64402	D	0.000004	T	0.43986	0.1272	L	0.55990	1.75	0.80722	D	1	P;B;B	0.49961	0.93;0.096;0.001	P;B;B	0.45276	0.475;0.081;0.003	T	0.43130	-0.9410	10	0.52906	T	0.07	-12.7875	13.6792	0.62474	1.0:0.0:0.0:0.0	.	177;222;222	B4E1E4;B8ZZJ9;O60573	.;.;IF4E2_HUMAN	E	222;222;222;222;177;177;177	ENSP00000258416:K222E;ENSP00000387336:K222E;ENSP00000386996:K222E;ENSP00000386876:K222E;ENSP00000387328:K177E;ENSP00000386424:K177E;ENSP00000386983:K177E	ENSP00000258416:K222E	K	+	1	0	EIF4E2	233140167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.330000	0.79161	0.528000	0.53228	AAA;AAG;AAG;AAG;AAG;AAA;AAG		0.507	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2	NM_004846	Missense_Mutation	3	103	0	0	0	0	3	103				
UGT1A6	54578	broad.mit.edu	37	2	234602466	234602466	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:234602466C>T	ENST00000305139.6	+	1	955	c.816C>T	c.(814-816)gtC>gtT	p.V272V	UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_3'UTR|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Silent_p.V5V|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000406651.1_Silent_p.V5V	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	272					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CCAACATGGTCTTCATTGGAG	0.438																																						uc002vuv.3		NA																	0					0						c.(814-816)GTC>GTT		UDP glycosyltransferase 1 family, polypeptide A6							376.0	394.0	388.0					2																	234602466		2203	4300	6503	SO:0001819	synonymous_variant	54578				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr2:234602466C>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.816C>T	2.37:g.234602466C>T						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Silent_p.V5V|UGT1A6_uc010zmy.1_Silent_p.V272V	p.V272V	NM_001072	NP_001063	P19224	UD16_HUMAN		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	955	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	272					A6NKK6|B8K289|Q96TE7	Silent	SNP	ENST00000305139.6	37	c.816C>T	CCDS2507.1																																																																																				0.438	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		243	375	0	0	0	0	243	375				
STK25	10494	broad.mit.edu	37	2	242435884	242435884	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:242435884G>C	ENST00000316586.4	-	11	1519	c.1170C>G	c.(1168-1170)ttC>ttG	p.F390L	STK25_ENST00000535007.1_Missense_Mutation_p.F296L|STK25_ENST00000405585.1_Missense_Mutation_p.F313L|STK25_ENST00000401869.1_Missense_Mutation_p.F390L|STK25_ENST00000405883.3_Missense_Mutation_p.F313L|STK25_ENST00000403346.3_Missense_Mutation_p.F390L|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000543554.1_Missense_Mutation_p.F296L	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	390					establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CGGCCAGGCTGAAGGCGTTCT	0.657																																					NSCLC(99;1100 1566 7679 28647 48345)	uc002wbm.2		NA																	0					0						c.(1168-1170)TTC>TTG		serine/threonine kinase 25							72.0	69.0	70.0					2																	242435884		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242435884G>C	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.1170C>G	2.37:g.242435884G>C	ENSP00000325748:p.Phe390Leu					STK25_uc002wbk.2_Missense_Mutation_p.F209L|STK25_uc002wbl.2_3'UTR|STK25_uc002wbn.2_Missense_Mutation_p.F390L|STK25_uc002wbo.2_Missense_Mutation_p.F313L|STK25_uc010zos.1_Missense_Mutation_p.F296L|STK25_uc010zot.1_Missense_Mutation_p.F316L|STK25_uc002wbp.2_Missense_Mutation_p.F390L|STK25_uc010fzo.2_Missense_Mutation_p.F313L|STK25_uc010zou.1_Missense_Mutation_p.F296L|STK25_uc010zov.1_Missense_Mutation_p.F296L	p.F390L	NM_006374	NP_006365	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	10	1441	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	390					A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.1170C>G	CCDS2549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.971325|4.971325	0.92919|0.92919	.|.	.|.	ENSG00000115694|ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007|ENST00000423004	T;T;T;T;T;T;T|.	0.39592|.	1.07;1.07;1.07;1.07;1.07;1.07;1.07|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64360|0.64360	0.2591|0.2591	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.12837|.	0.008;0.008;0.008|.	T|T	0.63782|0.63782	-0.6559|-0.6559	10|5	0.27785|.	T|.	0.31|.	.|.	9.301|9.301	0.37845|0.37845	0.1611:0.0:0.8389:0.0|0.1611:0.0:0.8389:0.0	.|.	316;313;390|.	B4DVS7;A8K6Z3;O00506|.	.;.;STK25_HUMAN|.	L|E	390;390;390;313;300;313;296;296|234	ENSP00000325748:F390L;ENSP00000384162:F390L;ENSP00000385687:F390L;ENSP00000384444:F313L;ENSP00000385541:F313L;ENSP00000444886:F296L;ENSP00000446008:F296L|.	ENSP00000325748:F390L|.	F|Q	-|-	3|1	2|0	STK25|STK25	242084557|242084557	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.527000|1.527000	0.35975|0.35975	2.416000|2.416000	0.81992|0.81992	0.655000|0.655000	0.94253|0.94253	TTC|CAG		0.657	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		13	59	0	0	0	0	13	59				
ACSS1	84532	broad.mit.edu	37	20	24993469	24993469	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:24993469G>A	ENST00000323482.4	-	11	1765	c.1686C>T	c.(1684-1686)acC>acT	p.T562T	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Silent_p.T479T|ACSS1_ENST00000542618.1_Silent_p.T441T	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	562					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAATCTCTGCGGTCCCCAGCC	0.597																																						uc002wub.2		NA																	0				ovary(1)|skin(1)	2						c.(1684-1686)ACC>ACT		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						124.0	108.0	113.0					20																	24993469		2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24993469G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1686C>T	20.37:g.24993469G>A						ACSS1_uc002wuc.2_Silent_p.T560T|ACSS1_uc010gdc.2_Silent_p.T357T|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Silent_p.T479T	p.T562T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			11	2564	-			562					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.1686C>T	CCDS13167.1																																																																																				0.597	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		38	34	0	0	0	0	38	34				
KIF3B	9371	broad.mit.edu	37	20	30898796	30898796	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:30898796G>A	ENST00000375712.3	+	2	1383	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	406	Poly-Glu.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			gggtgaggaggaaggggaTGA	0.557																																						uc002wxq.2		NA																	0				central_nervous_system(3)|ovary(2)	5						c.(1216-1218)GAA>AAA		kinesin family member 3B							77.0	68.0	71.0					20																	30898796		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898796G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1216G>A	20.37:g.30898796G>A	ENSP00000364864:p.Glu406Lys					KIF3B_uc010ztv.1_Intron|KIF3B_uc010ztw.1_Intron	p.E406K	NM_004798	NP_004789	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1383	+			406			Poly-Glu.|Potential.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.1216G>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664057	0.47572	.	.	ENSG00000101350	ENST00000375712	T	0.74947	-0.89	4.93	3.95	0.45737	.	0.274583	0.34777	N	0.003683	T	0.53270	0.1786	N	0.05351	-0.065	0.80722	D	1	B	0.26002	0.139	B	0.27076	0.076	T	0.50474	-0.8824	10	0.16420	T	0.52	.	13.6717	0.62430	0.0758:0.0:0.9242:0.0	.	406	O15066	KIF3B_HUMAN	K	406	ENSP00000364864:E406K	ENSP00000364864:E406K	E	+	1	0	KIF3B	30362457	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.606000	0.98325	2.574000	0.86865	0.448000	0.29417	GAA		0.557	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		8	14	0	0	0	0	8	14				
SAMHD1	25939	broad.mit.edu	37	20	35532577	35532577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:35532577C>A	ENST00000262878.4	-	13	1685	c.1486G>T	c.(1486-1488)Gaa>Taa	p.E496*		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	496					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATAAAATCTTCAGCCTTCAGT	0.378																																						uc002xgh.1		NA																	0					0						c.(1486-1488)GAA>TAA		SAM domain- and HD domain-containing protein 1							165.0	157.0	159.0					20																	35532577		2203	4300	6503	SO:0001587	stop_gained	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35532577C>A	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1486G>T	20.37:g.35532577C>A	ENSP00000262878:p.Glu496*					SAMHD1_uc010gft.1_RNA	p.E496*	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			13	1616	-		Myeloproliferative disorder(115;0.00878)	496					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Nonsense_Mutation	SNP	ENST00000262878.4	37	c.1486G>T	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	38	7.271920	0.98179	.	.	ENSG00000101347	ENST00000262878	.	.	.	5.74	4.79	0.61399	.	0.048308	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-28.7413	14.8303	0.70142	0.0:0.929:0.0:0.071	.	.	.	.	X	496	.	ENSP00000262878:E496X	E	-	1	0	SAMHD1	34965991	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	2.809000	0.47971	2.716000	0.92895	0.563000	0.77884	GAA		0.378	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		22	108	1	0	1.11e-09	1.21e-09	22	108				
ZNF334	55713	broad.mit.edu	37	20	45140723	45140723	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:45140723G>T	ENST00000347606.4	-	2	201	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	ZNF334_ENST00000457685.2_5'UTR	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAACTTACCTGAAATTTTTTC	0.378																																						uc002xsc.2		NA																	0				ovary(1)|pancreas(1)	2						c.(19-21)CAG>AAG		zinc finger protein 334 isoform a							95.0	90.0	92.0					20																	45140723		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45140723G>T	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.19C>A	20.37:g.45140723G>T	ENSP00000255129:p.Gln7Lys					ZNF334_uc002xsd.2_5'UTR|ZNF334_uc010ghl.2_5'UTR	p.Q7K	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			2	203	-		Myeloproliferative disorder(115;0.0122)	7					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.19C>A	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792485	0.31685	.	.	ENSG00000198185	ENST00000347606	T	0.00922	5.54	3.06	2.1	0.27182	Krueppel-associated box (1);	.	.	.	.	T	0.01421	0.0046	M	0.68952	2.095	0.80722	D	1	B	0.25048	0.117	B	0.24974	0.057	T	0.52223	-0.8604	9	0.59425	D	0.04	.	6.329	0.21259	0.1387:0.0:0.8613:0.0	.	7	Q9HCZ1	ZN334_HUMAN	K	7	ENSP00000255129:Q7K	ENSP00000255129:Q7K	Q	-	1	0	ZNF334	44574130	0.958000	0.32768	0.989000	0.46669	0.854000	0.48673	0.900000	0.28431	0.869000	0.35703	0.585000	0.79938	CAG		0.378	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			20	26	1	0	7.88e-14	8.78e-14	20	26				
ZNFX1	57169	broad.mit.edu	37	20	47887747	47887747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:47887747C>T	ENST00000396105.1	-	3	848	c.602G>A	c.(601-603)cGc>cAc	p.R201H	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R201H|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R201H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	201							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R201H(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AACACTCTGGCGATCCATTTT	0.453																																						uc002xui.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(2)	2						c.(601-603)CGC>CAC		zinc finger, NFX1-type containing 1							130.0	134.0	133.0					20																	47887747		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887747C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.602G>A	20.37:g.47887747C>T	ENSP00000379412:p.Arg201His						p.R201H	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	849	-			201					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.602G>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569896	0.28003	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	T;T;T;T;D	0.86230	-0.82;-0.82;-0.82;-0.82;-2.09	5.86	4.92	0.64577	.	0.105044	0.64402	D	0.000005	D	0.90256	0.6953	L	0.49350	1.555	0.48901	D	0.99972	D	0.89917	1.0	D	0.68621	0.959	D	0.88591	0.3143	10	0.30078	T	0.28	-22.9015	13.753	0.62919	0.0:0.9257:0.0:0.0743	.	201	Q9P2E3	ZNFX1_HUMAN	H	201;201;201;201;201;5	ENSP00000360819:R201H;ENSP00000360817:R201H;ENSP00000379412:R201H;ENSP00000360809:R201H;ENSP00000413800:R5H	ENSP00000360809:R201H	R	-	2	0	ZNFX1	47321154	1.000000	0.71417	0.989000	0.46669	0.150000	0.21749	6.060000	0.71141	1.490000	0.48466	-0.140000	0.14226	CGC		0.453	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		57	65	0	0	0	0	57	65				
KCNB1	3745	broad.mit.edu	37	20	47990164	47990164	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:47990164C>G	ENST00000371741.4	-	2	2099	c.1933G>C	c.(1933-1935)Gat>Cat	p.D645H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	645					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TGGCTGGCATCAGGGCTGGGG	0.567																																						uc002xur.1		NA																	0				pancreas(1)|skin(1)	2						c.(1933-1935)GAT>CAT		potassium voltage-gated channel, Shab-related							43.0	44.0	44.0					20																	47990164		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990164C>G	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1933G>C	20.37:g.47990164C>G	ENSP00000360806:p.Asp645His					KCNB1_uc002xus.1_Missense_Mutation_p.D645H	p.D645H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2097	-			645			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1933G>C	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	2.380	-0.342310	0.05243	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.22336	1.96	5.7	4.76	0.60689	.	1.713730	0.02333	N	0.074174	T	0.22003	0.0530	L	0.31664	0.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36529	-0.9744	10	0.25106	T	0.35	.	14.1456	0.65349	0.0:0.9272:0.0:0.0728	.	645	Q14721	KCNB1_HUMAN	H	645;600	ENSP00000360806:D645H	ENSP00000360806:D645H	D	-	1	0	KCNB1	47423571	0.976000	0.34144	0.042000	0.18584	0.314000	0.28054	3.470000	0.53100	1.415000	0.47037	0.655000	0.94253	GAT		0.567	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	57	0	0	0	0	7	57				
LAMA5	3911	broad.mit.edu	37	20	60884793	60884793	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:60884793G>C	ENST00000252999.3	-	79	10993	c.10927C>G	c.(10927-10929)Ctg>Gtg	p.L3643V	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3643	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCGAGGTACAGAGGGGCTGGG	0.672																																						uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(10927-10929)CTG>GTG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						13.0	16.0	15.0					20																	60884793		2160	4230	6390	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60884793G>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10927C>G	20.37:g.60884793G>C	ENSP00000252999:p.Leu3643Val						p.L3643V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		79	10994	-	Breast(26;1.57e-08)		3643			Laminin G-like 5.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.10927C>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.246264	0.22796	.	.	ENSG00000130702	ENST00000252999	T	0.80909	-1.43	5.08	0.828	0.18841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.340998	0.26971	N	0.021579	T	0.76637	0.4015	L	0.61218	1.895	0.80722	D	1	P	0.42296	0.775	B	0.43658	0.426	T	0.69323	-0.5175	10	0.31617	T	0.26	.	9.3383	0.38065	0.44:0.0:0.56:0.0	.	3643	O15230	LAMA5_HUMAN	V	3643	ENSP00000252999:L3643V	ENSP00000252999:L3643V	L	-	1	2	LAMA5	60318188	0.039000	0.19947	0.154000	0.22540	0.130000	0.20726	0.328000	0.19681	-0.063000	0.13065	0.550000	0.68814	CTG		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		10	12	0	0	0	0	10	12				
RWDD2B	10069	broad.mit.edu	37	21	30380432	30380432	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr21:30380432C>G	ENST00000493196.1	-	4	475	c.375G>C	c.(373-375)ttG>ttC	p.L125F	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	125	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GGGATCTACTCAATAATACTG	0.358																																						uc002yms.2		NA																	0					0						c.(373-375)TTG>TTC		RWD domain containing 2B							45.0	46.0	46.0					21																	30380432		2199	4299	6498	SO:0001583	missense	10069							g.chr21:30380432C>G	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.375G>C	21.37:g.30380432C>G	ENSP00000418693:p.Leu125Phe					RWDD2B_uc002ymt.2_Missense_Mutation_p.L96F|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.L45F	p.L125F	NM_016940	NP_058636	P57060	RWD2B_HUMAN			4	462	-			125			RWD.			Missense_Mutation	SNP	ENST00000493196.1	37	c.375G>C	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198693	0.38806	.	.	ENSG00000156253	ENST00000493196	T	0.39229	1.09	5.38	-1.06	0.10002	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.068147	0.56097	D	0.000021	T	0.62208	0.2409	M	0.83012	2.62	0.53688	D	0.999974	D;D	0.89917	0.966;1.0	P;D	0.79108	0.866;0.992	T	0.64257	-0.6450	10	0.52906	T	0.07	-25.0557	12.9977	0.58657	0.0:0.5587:0.0:0.4413	.	125;125	Q53FD2;P57060	.;RWD2B_HUMAN	F	125	ENSP00000418693:L125F	ENSP00000418693:L125F	L	-	3	2	RWDD2B	29302303	0.744000	0.28250	0.240000	0.24138	0.406000	0.30931	-0.287000	0.08388	-0.326000	0.08564	-0.302000	0.09304	TTG		0.358	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			13	35	0	0	0	0	13	35				
MICAL3	57553	broad.mit.edu	37	22	18387474	18387474	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:18387474G>A	ENST00000441493.2	-	3	748	c.396C>T	c.(394-396)ttC>ttT	p.F132F	MICAL3_ENST00000414725.2_Silent_p.F132F|MICAL3_ENST00000207726.7_Silent_p.F132F|MICAL3_ENST00000585038.1_Silent_p.F132F|MICAL3_ENST00000400561.2_Silent_p.F132F|MICAL3_ENST00000444520.1_Silent_p.F132F|MICAL3_ENST00000429452.1_Silent_p.F132F|MICAL3_ENST00000383094.3_Silent_p.F132F	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	132	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CATGTATGGTGAATGGCCAGA	0.483																																						uc002zng.3		NA																	0					0						c.(394-396)TTC>TTT		microtubule associated monoxygenase, calponin							228.0	202.0	210.0					22																	18387474		1568	3582	5150	SO:0001819	synonymous_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18387474G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.396C>T	22.37:g.18387474G>A						MICAL3_uc011agl.1_Silent_p.F132F|MICAL3_uc002znh.2_Silent_p.F132F|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Silent_p.F132F|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Silent_p.F132F|MICAL3_uc011agm.1_Silent_p.F132F	p.F132F	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	3	749	-		all_epithelial(15;0.198)	132					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.396C>T	CCDS46659.1																																																																																				0.483	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			32	91	0	0	0	0	32	91				
MICAL3	57553	broad.mit.edu	37	22	18387600	18387600	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:18387600G>A	ENST00000441493.2	-	3	622	c.270C>T	c.(268-270)ctC>ctT	p.L90L	MICAL3_ENST00000414725.2_Silent_p.L90L|MICAL3_ENST00000207726.7_Silent_p.L90L|MICAL3_ENST00000585038.1_Silent_p.L90L|MICAL3_ENST00000400561.2_Silent_p.L90L|MICAL3_ENST00000444520.1_Silent_p.L90L|MICAL3_ENST00000429452.1_Silent_p.L90L|MICAL3_ENST00000383094.3_Silent_p.L90L	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	90	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCCAATGATGAGACACTGAA	0.507																																						uc002zng.3		NA																	0					0						c.(268-270)CTC>CTT		microtubule associated monoxygenase, calponin							50.0	46.0	48.0					22																	18387600		1568	3582	5150	SO:0001819	synonymous_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18387600G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.270C>T	22.37:g.18387600G>A						MICAL3_uc011agl.1_Silent_p.L90L|MICAL3_uc002znh.2_Silent_p.L90L|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Silent_p.L90L|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Silent_p.L90L|MICAL3_uc011agm.1_Silent_p.L90L	p.L90L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	3	623	-		all_epithelial(15;0.198)	90			FAD (Potential).		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.270C>T	CCDS46659.1																																																																																				0.507	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			4	20	0	0	0	0	4	20				
MICAL3	57553	broad.mit.edu	37	22	18389542	18389542	+	Missense_Mutation	SNP	G	G	C	rs369052034		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:18389542G>C	ENST00000441493.2	-	2	389	c.37C>G	c.(37-39)Cat>Gat	p.H13D	MICAL3_ENST00000414725.2_Missense_Mutation_p.H13D|MICAL3_ENST00000207726.7_Missense_Mutation_p.H13D|MICAL3_ENST00000585038.1_Missense_Mutation_p.H13D|MICAL3_ENST00000400561.2_Missense_Mutation_p.H13D|MICAL3_ENST00000444520.1_Missense_Mutation_p.H13D|MICAL3_ENST00000429452.1_Missense_Mutation_p.H13D|MICAL3_ENST00000383094.3_Missense_Mutation_p.H13D	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	13	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AAGAGGACATGAGCTGGGTTC	0.577																																						uc002zng.3		NA																	0					0						c.(37-39)CAT>GAT		microtubule associated monoxygenase, calponin							128.0	119.0	122.0					22																	18389542		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18389542G>C	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.37C>G	22.37:g.18389542G>C	ENSP00000416015:p.His13Asp					MICAL3_uc011agl.1_Missense_Mutation_p.H13D|MICAL3_uc002znh.2_Missense_Mutation_p.H13D|MICAL3_uc002znk.1_Missense_Mutation_p.H13D|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.H13D|MICAL3_uc011agm.1_Missense_Mutation_p.H13D	p.H13D	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	2	390	-		all_epithelial(15;0.198)	13					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.37C>G	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726639	0.48833	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726;ENST00000424046	T;T;T;T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34;3.34;3.34;3.34	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	M	0.69823	2.125	0.53005	D	0.999965	B;D;B;P;D	0.63880	0.051;0.965;0.11;0.924;0.993	B;B;B;P;D	0.70935	0.051;0.436;0.062;0.536;0.971	T	0.01130	-1.1442	10	0.19147	T	0.46	.	20.0961	0.97843	0.0:0.0:1.0:0.0	.	13;13;13;13;13	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	D	13	ENSP00000416015:H13D;ENSP00000414846:H13D;ENSP00000383406:H13D;ENSP00000410315:H13D;ENSP00000391827:H13D;ENSP00000372574:H13D;ENSP00000207726:H13D;ENSP00000406193:H13D	ENSP00000207726:H13D	H	-	1	0	XXbac-B461K10.4;MICAL3	16769542	1.000000	0.71417	0.928000	0.36995	0.998000	0.95712	7.980000	0.88113	2.813000	0.96785	0.655000	0.94253	CAT		0.577	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			18	63	0	0	0	0	18	63				
C22orf15	150248	broad.mit.edu	37	22	24106898	24106898	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:24106898C>T	ENST00000402217.3	+	4	576	c.323C>T	c.(322-324)gCa>gTa	p.A108V	C22orf15_ENST00000305199.5_Nonsense_Mutation_p.Q110*|C22orf15_ENST00000382821.3_Missense_Mutation_p.A113V	NM_182520.2	NP_872326.2	Q8WYQ4	CV015_HUMAN	chromosome 22 open reading frame 15	108										breast(1)|pancreas(1)	2		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				CCAGAGCTGGCAGGTGAGTGT	0.587																																						uc011aja.1		NA																	0					0						c.(322-324)GCA>GTA		hypothetical protein LOC150248							102.0	89.0	93.0					22																	24106898		2203	4300	6503	SO:0001583	missense	150248							g.chr22:24106898C>T	AB050773	CCDS13814.2	22q11.23	2012-11-13			ENSG00000169314	ENSG00000169314			15558	protein-coding gene	gene with protein product							Standard	NM_182520		Approved	FLJ36561, N27C7-3	uc011aja.2	Q8WYQ4	OTTHUMG00000150740	ENST00000402217.3:c.323C>T	22.37:g.24106898C>T	ENSP00000384965:p.Ala108Val					C22orf15_uc002zxv.1_3'UTR|C22orf15_uc002zxu.2_Missense_Mutation_p.A113V	p.A108V	NM_182520	NP_872326	Q8WYQ4	CV015_HUMAN			4	609	+		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)	108					Q6ICJ7	Missense_Mutation	SNP	ENST00000402217.3	37	c.323C>T	CCDS13814.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.732079|4.732079	0.89390|0.89390	.|.	.|.	ENSG00000169314|ENSG00000169314	ENST00000336186;ENST00000402217;ENST00000382821|ENST00000305199	.|.	.|.	.|.	4.13|4.13	3.1|3.1	0.35709|0.35709	.|.	0.106561|.	0.38605|.	N|.	0.001633|.	T|.	0.41604|.	0.1166|.	L|L	0.50919|0.50919	1.6|1.6	0.26779|0.26779	N|N	0.969637|0.969637	D;D|.	0.63880|.	0.993;0.966|.	P;P|.	0.59221|.	0.854;0.676|.	T|.	0.31998|.	-0.9923|.	9|.	0.59425|0.02654	D|T	0.04|1	0.0495|0.0495	13.3653|13.3653	0.60680|0.60680	0.0:0.8397:0.1603:0.0|0.0:0.8397:0.1603:0.0	.|.	108;113|.	Q8WYQ4;Q8WYQ4-2|.	CV015_HUMAN;.|.	V|X	113;108;113|110	.|.	ENSP00000336688:A113V|ENSP00000305096:Q110X	A|Q	+|+	2|1	0|0	C22orf15|C22orf15	22436898|22436898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.164000|3.164000	0.50770|0.50770	1.041000|1.041000	0.40125|0.40125	-0.155000|-0.155000	0.13514|0.13514	GCA|CAG		0.587	C22orf15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319887.2	NM_182520		11	25	0	0	0	0	11	25				
EIF3L	51386	broad.mit.edu	37	22	38270460	38270460	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:38270460C>T	ENST00000412331.2	+	9	1417	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	EIF3L_ENST00000406934.1_Missense_Mutation_p.R181C|EIF3L_ENST00000381683.6_Missense_Mutation_p.R231C	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGGCTTCTCCGCCTGCACTC	0.547																																						uc003auf.2		NA																	0				ovary(1)	1						c.(835-837)CGC>TGC		eukaryotic translation initiation factor 3							153.0	120.0	131.0					22																	38270460		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38270460C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.835C>T	22.37:g.38270460C>T	ENSP00000416892:p.Arg279Cys					EIF3L_uc003aue.1_Missense_Mutation_p.R279C|EIF3L_uc011ann.1_Missense_Mutation_p.R231C|EIF3L_uc003aug.2_Missense_Mutation_p.R171C|EIF3L_uc003auh.2_Missense_Mutation_p.R12C	p.R279C	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN			9	922	+			279						Missense_Mutation	SNP	ENST00000412331.2	37	c.835C>T	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494571	0.64186	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.59364	0.27;0.27;0.27	4.96	2.71	0.32032	Tetratricopeptide-like helical (1);	0.156481	0.56097	D	0.000023	T	0.79100	0.4389	M	0.93328	3.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.993;0.998;0.999	T	0.82293	-0.0529	10	0.87932	D	0	-6.0165	9.7285	0.40346	0.1394:0.7869:0.0:0.0737	.	231;181;279;322	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	C	279;322;231;246;181	ENSP00000416892:R279C;ENSP00000371099:R231C;ENSP00000384634:R181C	ENSP00000262832:R246C	R	+	1	0	EIF3L	36600406	1.000000	0.71417	0.998000	0.56505	0.713000	0.41058	3.781000	0.55394	1.255000	0.44051	-0.243000	0.11985	CGC		0.547	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		44	19	0	0	0	0	44	19				
ST13	6767	broad.mit.edu	37	22	41240914	41240914	+	Splice_Site	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:41240914C>T	ENST00000216218.3	-	4	726		c.e4-1			NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)						chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTATCAATTTCTGCCAAAGTC	0.388																																						uc003aze.2		NA																	0					0						c.e4-1		heat shock 70kD protein binding protein							58.0	52.0	54.0					22																	41240914		2203	4300	6503	SO:0001630	splice_region_variant	6767						protein binding, bridging	g.chr22:41240914C>T		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.245-1G>A	22.37:g.41240914C>T						ST13_uc011aow.1_Splice_Site_p.E72_splice	p.E82_splice	NM_003932	NP_003923	P50502	F10A1_HUMAN			4	388	-								O14999|Q2TU77	Splice_Site	SNP	ENST00000216218.3	37	c.245_splice	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396269	0.83011	.	.	ENSG00000100380	ENST00000216218;ENST00000542699;ENST00000401032;ENST00000411695	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7902	0.96453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST13	39570860	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.513000	0.73742	2.780000	0.95670	0.585000	0.79938	.		0.388	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932	Intron	6	15	0	0	0	0	6	15				
MPPED1	758	broad.mit.edu	37	22	43898630	43898630	+	Silent	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:43898630C>A	ENST00000417669.2	+	6	1299	c.855C>A	c.(853-855)atC>atA	p.I285I	MPPED1_ENST00000542779.1_Silent_p.I285I|MPPED1_ENST00000443721.1_Silent_p.I285I|MPPED1_ENST00000439548.1_Silent_p.I127I|MPPED1_ENST00000414469.2_Silent_p.I179I|MPPED1_ENST00000538182.1_Silent_p.I318I			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	285							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TTGGCCACATCCACGAAGGTC	0.612																																						uc011apv.1		NA																	0					0						c.(853-855)ATC>ATA		metallophosphoesterase domain containing 1							69.0	78.0	75.0					22																	43898630		2191	4296	6487	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43898630C>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.855C>A	22.37:g.43898630C>A						MPPED1_uc011apw.1_Silent_p.I179I|MPPED1_uc011apx.1_Silent_p.I127I|MPPED1_uc011apy.1_Silent_p.I285I|MPPED1_uc011apz.1_Silent_p.I318I	p.I285I	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			6	1078	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	285					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.855C>A	CCDS46723.1																																																																																				0.612	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		14	29	1	0	6.32e-08	6.82e-08	14	29				
PLXNB2	23654	broad.mit.edu	37	22	50724681	50724681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr22:50724681G>A	ENST00000449103.1	-	9	1938	c.1798C>T	c.(1798-1800)Cga>Tga	p.R600*	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.R600*			O15031	PLXB2_HUMAN	plexin B2	600					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATGTTGCCTCGTCTAAGGAGG	0.647																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1798-1800)CGA>TGA		plexin B2 precursor							97.0	108.0	104.0					22																	50724681		2173	4275	6448	SO:0001587	stop_gained	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50724681G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1798C>T	22.37:g.50724681G>A	ENSP00000409171:p.Arg600*						p.R600*	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	9	1904	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	600			Extracellular (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Nonsense_Mutation	SNP	ENST00000449103.1	37	c.1798C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	38	6.804127	0.97849	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	.	.	.	4.01	1.61	0.23674	.	1.094830	0.07090	N	0.838540	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	9.409	0.38480	0.0:0.0:0.4763:0.5237	.	.	.	.	X	600	.	ENSP00000352288:R600X	R	-	1	2	PLXNB2	49066808	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.020000	0.13466	0.786000	0.33708	0.491000	0.48974	CGA		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		59	20	0	0	0	0	59	20				
EPHA3	2042	broad.mit.edu	37	3	89498433	89498433	+	Missense_Mutation	SNP	C	C	G	rs369423490		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:89498433C>G	ENST00000336596.2	+	14	2630	c.2405C>G	c.(2404-2406)aCg>aGg	p.T802R	EPHA3_ENST00000494014.1_Missense_Mutation_p.T802R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCAAGTTCACGTCAGCCAGC	0.438										TSP Lung(6;0.00050)																												uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2404-2406)ACG>AGG		ephrin receptor EphA3 isoform a precursor		C	ARG/THR	0,4406		0,0,2203	232.0	216.0	221.0		2405	5.3	1.0	3		221	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHA3	NM_005233.5	71	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	802/984	89498433	1,13005	2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89498433C>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2405C>G	3.37:g.89498433C>G	ENSP00000337451:p.Thr802Arg	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.T802R	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	14	2630	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	802			Cytoplasmic (Potential).|Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2405C>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498387	0.85069	0.0	1.16E-4	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.66099	-0.19;-0.19	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88049	0.2786	9	.	.	.	.	19.0702	0.93130	0.0:1.0:0.0:0.0	.	802	P29320	EPHA3_HUMAN	R	802	ENSP00000337451:T802R;ENSP00000419190:T802R	.	T	+	2	0	EPHA3	89581123	1.000000	0.71417	0.951000	0.38953	0.818000	0.46254	7.772000	0.85439	2.507000	0.84556	0.655000	0.94253	ACG		0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		50	65	0	0	0	0	50	65				
OR5H14	403273	broad.mit.edu	37	3	97868318	97868318	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:97868318C>A	ENST00000437310.1	+	1	149	c.89C>A	c.(88-90)gCa>gAa	p.A30E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGTTCCTGGCATTCTTGGTA	0.418																																						uc003dsg.1		NA																	0				skin(1)	1						c.(88-90)GCA>GAA		olfactory receptor, family 5, subfamily H,							101.0	105.0	104.0					3																	97868318		2203	4296	6499	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868318C>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.89C>A	3.37:g.97868318C>A	ENSP00000401706:p.Ala30Glu						p.A30E	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	89	+			30			Helical; Name=1; (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.89C>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	9.813	1.183775	0.21870	.	.	ENSG00000236032	ENST00000437310	T	0.03004	4.08	2.49	1.29	0.21616	.	0.942773	0.08642	N	0.915358	T	0.04907	0.0132	L	0.50333	1.59	0.09310	N	1	P	0.40794	0.729	B	0.39562	0.303	T	0.39742	-0.9599	10	0.87932	D	0	.	5.4048	0.16316	0.0:0.1616:0.0:0.8384	.	30	A6NHG9	O5H14_HUMAN	E	30	ENSP00000401706:A30E	ENSP00000401706:A30E	A	+	2	0	OR5H14	99351008	0.001000	0.12720	0.605000	0.28930	0.368000	0.29767	0.913000	0.28611	0.203000	0.20529	0.195000	0.17529	GCA		0.418	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			80	153	1	0	2.37e-37	2.71e-37	80	153				
CCDC80	151887	broad.mit.edu	37	3	112358039	112358039	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:112358039C>T	ENST00000206423.3	-	2	1667	c.714G>A	c.(712-714)ctG>ctA	p.L238L	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Silent_p.L238L	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	238					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GCGTCTTCTTCAGCAGCACCA	0.582																																						uc003dzf.2		NA																	0				ovary(2)	2						c.(712-714)CTG>CTA		steroid-sensitive protein 1 precursor							130.0	124.0	126.0					3																	112358039		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112358039C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.714G>A	3.37:g.112358039C>T						CCDC80_uc011bhv.1_Silent_p.L238L|CCDC80_uc003dzg.2_Silent_p.L238L|CCDC80_uc003dzh.1_Silent_p.L238L	p.L238L	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	932	-			238					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.714G>A	CCDS2968.1																																																																																				0.582	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		20	108	0	0	0	0	20	108				
DRD3	1814	broad.mit.edu	37	3	113850024	113850024	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:113850024T>G	ENST00000460779.1	-	7	1236	c.947A>C	c.(946-948)cAa>cCa	p.Q316P	DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Missense_Mutation_p.Q316P|DRD3_ENST00000383673.2_Missense_Mutation_p.Q316P	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	316					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCCCCGAGGTTGCAGGGGCCC	0.537																																						uc003ebd.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(946-948)CAA>CCA		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						109.0	108.0	109.0					3																	113850024		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113850024T>G		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.947A>C	3.37:g.113850024T>G	ENSP00000419402:p.Gln316Pro					DRD3_uc010hqn.1_Missense_Mutation_p.Q316P|DRD3_uc003ebb.1_Intron|DRD3_uc003ebc.1_Missense_Mutation_p.Q316P	p.Q316P	NM_000796	NP_000787	P35462	DRD3_HUMAN			7	1370	-			316			Cytoplasmic.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.947A>C	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416706	0.42918	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673	T;T;T	0.72282	-0.64;-0.64;-0.64	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.144560	0.48767	D	0.000175	T	0.73713	0.3622	L	0.41710	1.295	0.45594	D	0.998532	P;P;P	0.37548	0.599;0.599;0.599	P;P;B	0.50162	0.633;0.633;0.433	T	0.73610	-0.3928	10	0.45353	T	0.12	.	15.4756	0.75478	0.0:0.0:0.0:1.0	.	316;316;316	A1A4V4;A8K8E4;P35462	.;.;DRD3_HUMAN	P	316	ENSP00000419402:Q316P;ENSP00000420662:Q316P;ENSP00000373169:Q316P	ENSP00000373169:Q316P	Q	-	2	0	DRD3	115332714	1.000000	0.71417	0.975000	0.42487	0.749000	0.42624	3.725000	0.54970	2.311000	0.77944	0.528000	0.53228	CAA		0.537	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		21	94	0	0	0	0	21	94				
ZNF80	7634	broad.mit.edu	37	3	113955700	113955700	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:113955700C>T	ENST00000482457.2	-	1	725	c.222G>A	c.(220-222)gtG>gtA	p.V74V	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CATAAGGCTTCACCCCAGTGT	0.498																																					GBM(23;986 1114 21716)	uc010hqo.2		NA																	0					0						c.(220-222)GTG>GTA		zinc finger protein 80							94.0	80.0	85.0					3																	113955700		2203	4300	6503	SO:0001819	synonymous_variant	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955700C>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.222G>A	3.37:g.113955700C>T						ZNF80_uc003ebf.2_RNA	p.V74V	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	726	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	74					Q6NSW4|Q6NT14	Silent	SNP	ENST00000482457.2	37	c.222G>A	CCDS2979.1																																																																																				0.498	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		8	23	0	0	0	0	8	23				
STXBP5L	9515	broad.mit.edu	37	3	120941894	120941894	+	Missense_Mutation	SNP	C	C	A	rs369807784		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:120941894C>A	ENST00000273666.6	+	11	1272	c.1001C>A	c.(1000-1002)gCt>gAt	p.A334D	STXBP5L_ENST00000497029.1_Missense_Mutation_p.A334D|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A334D|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A334D|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A334D	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	334					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TATGACAAAGCTTGTAGAAGA	0.368																																						uc003eec.3		NA																	0				ovary(7)|skin(2)	9						c.(1000-1002)GCT>GAT		syntaxin binding protein 5-like							161.0	152.0	155.0					3																	120941894		1877	4098	5975	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120941894C>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1001C>A	3.37:g.120941894C>A	ENSP00000273666:p.Ala334Asp					STXBP5L_uc011bji.1_Missense_Mutation_p.A334D	p.A334D	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	11	1141	+			334			WD 6.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1001C>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680000	0.68042	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.36340	1.94;1.94;1.75;1.26;1.75;1.95	4.5	4.5	0.54988	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	L	0.43152	1.355	0.58432	D	0.999998	D;D	0.62365	0.968;0.991	P;P	0.62089	0.713;0.898	T	0.25950	-1.0117	10	0.38643	T	0.18	-2.7326	10.9633	0.47397	0.0:0.9142:0.0:0.0858	.	334;334	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	D	334	ENSP00000273666:A334D;ENSP00000420019:A334D;ENSP00000419627:A334D;ENSP00000420287:A334D;ENSP00000420666:A334D;ENSP00000420167:A334D	ENSP00000273666:A334D	A	+	2	0	STXBP5L	122424584	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.848000	0.55903	2.316000	0.78162	0.462000	0.41574	GCT		0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			33	59	1	0	1.27e-14	1.41e-14	33	59				
ARHGEF26	26084	broad.mit.edu	37	3	153973168	153973168	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr3:153973168C>G	ENST00000356448.4	+	15	2806	c.2522C>G	c.(2521-2523)cCt>cGt	p.P841R	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.P841R|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	841	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GGCTGGTTTCCTATGGAATGT	0.468																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1		NA																	0				large_intestine(1)	1						c.(2521-2523)CCT>CGT		Src homology 3 domain-containing guanine							153.0	149.0	150.0					3																	153973168		1956	4149	6105	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153973168C>G	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2522C>G	3.37:g.153973168C>G	ENSP00000348828:p.Pro841Arg					SGEF_uc011boh.1_3'UTR|SGEF_uc011boi.1_Missense_Mutation_p.P109R	p.P841R	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		15	2733	+			841			SH3.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.2522C>G	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301024	0.81136	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	D;D	0.90563	-2.69;-2.69	5.91	5.91	0.95273	Src homology-3 domain (4);	0.056019	0.64402	D	0.000001	D	0.97353	0.9134	H	0.97240	3.965	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.98107	1.0418	10	0.87932	D	0	-20.2161	19.8936	0.96942	0.0:1.0:0.0:0.0	.	841	Q96DR7	ARHGQ_HUMAN	R	841	ENSP00000348828:P841R;ENSP00000423418:P841R	ENSP00000348828:P841R	P	+	2	0	ARHGEF26	155455862	0.998000	0.40836	0.980000	0.43619	0.996000	0.88848	3.526000	0.53509	2.793000	0.96121	0.655000	0.94253	CCT		0.468	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		16	63	0	0	0	0	16	63				
NCAPG	64151	broad.mit.edu	37	4	17829921	17829921	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:17829921G>C	ENST00000251496.2	+	12	1850	c.1674G>C	c.(1672-1674)caG>caC	p.Q558H		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	558					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AAACATTGCAGAAATGTCTTA	0.348																																						uc003gpp.2		NA																	0				large_intestine(1)	1						c.(1672-1674)CAG>CAC		chromosome condensation protein G							135.0	133.0	133.0					4																	17829921		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17829921G>C	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1674G>C	4.37:g.17829921G>C	ENSP00000251496:p.Gln558His					NCAPG_uc011bxj.1_Missense_Mutation_p.Q67H	p.Q558H	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	12	1850	+			558					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.1674G>C	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752679	0.69533	.	.	ENSG00000109805	ENST00000251496;ENST00000510063	T;T	0.44482	0.94;0.92	5.01	3.29	0.37713	Armadillo-type fold (1);	0.202770	0.43260	D	0.000588	T	0.48021	0.1477	L	0.44542	1.39	0.30765	N	0.743627	D	0.64830	0.994	P	0.58391	0.838	T	0.50767	-0.8789	10	0.37606	T	0.19	-9.7854	11.1219	0.48296	0.1514:0.0:0.8486:0.0	.	558	Q9BPX3	CND3_HUMAN	H	558;123	ENSP00000251496:Q558H;ENSP00000425625:Q123H	ENSP00000251496:Q558H	Q	+	3	2	NCAPG	17439019	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.083000	0.64456	0.514000	0.28300	0.585000	0.79938	CAG		0.348	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		17	32	0	0	0	0	17	32				
SLIT2	9353	broad.mit.edu	37	4	20525414	20525414	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:20525414C>T	ENST00000504154.1	+	13	1414	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	SLIT2_ENST00000273739.5_Missense_Mutation_p.R392W|SLIT2_ENST00000503823.1_Missense_Mutation_p.R388W|SLIT2_ENST00000503837.1_Missense_Mutation_p.R392W	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	388					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAACTGCCTTCGGGTAGATGC	0.408																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1162-1164)CGG>TGG		slit homolog 2 precursor							139.0	133.0	135.0					4																	20525414		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525414C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1162C>T	4.37:g.20525414C>T	ENSP00000422591:p.Arg388Trp					SLIT2_uc003gps.1_Missense_Mutation_p.R388W	p.R388W	NM_004787	NP_004778	O94813	SLIT2_HUMAN			13	1366	+			388			LRR 10.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1162C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094627	0.94149	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.08	5.08	0.68730	.	0.057208	0.64402	D	0.000001	T	0.52597	0.1744	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.983	T	0.56245	-0.8011	10	0.87932	D	0	.	18.8999	0.92439	0.0:1.0:0.0:0.0	.	388;388	O94813-3;O94813	.;SLIT2_HUMAN	W	388;388;392;392;392	ENSP00000427548:R388W;ENSP00000422591:R388W;ENSP00000273739:R392W;ENSP00000422261:R392W	ENSP00000273739:R392W	R	+	1	2	SLIT2	20134512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.725000	0.84808	2.529000	0.85273	0.644000	0.83932	CGG		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			23	78	0	0	0	0	23	78				
KLF3	51274	broad.mit.edu	37	4	38696416	38696416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:38696416G>A	ENST00000261438.5	+	5	1050	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	249	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TTTACCTGTGGAATCCCCGGA	0.478																																						uc003gth.3		NA																	0				ovary(1)|lung(1)	2						c.(745-747)GAA>AAA		Kruppel-like factor 3 (basic)							127.0	122.0	124.0					4																	38696416		2203	4300	6503	SO:0001583	missense	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38696416G>A	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.745G>A	4.37:g.38696416G>A	ENSP00000261438:p.Glu249Lys						p.E249K	NM_016531	NP_057615	P57682	KLF3_HUMAN			5	1077	+			249			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	c.745G>A	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131249	0.94473	.	.	ENSG00000109787	ENST00000261438	T	0.57107	0.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.64404	1.975	0.80722	D	1	P	0.34522	0.455	B	0.28553	0.091	T	0.50215	-0.8854	10	0.39692	T	0.17	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	249	P57682	KLF3_HUMAN	K	249	ENSP00000261438:E249K	ENSP00000261438:E249K	E	+	1	0	KLF3	38372811	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAA		0.478	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			11	81	0	0	0	0	11	81				
EPHA5	2044	broad.mit.edu	37	4	66361186	66361187	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:66361186_66361187TG>AT	ENST00000273854.3	-	4	1585_1586	c.985_986CA>AT	c.(985-987)CAt>ATt	p.H329I	EPHA5_ENST00000354839.4_Missense_Mutation_p.H329I|EPHA5_ENST00000511294.1_Missense_Mutation_p.H329I|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	329	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGCTTCCTCATGGGTATAACTG	0.465										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(985-987)CAT>ATT		ephrin receptor EphA5 isoform a precursor																																				SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361186_66361187TG>AT	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.985_986delinsAT	4.37:g.66361186_66361187delinsAT	ENSP00000273854:p.His329Ile	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.H260I|EPHA5_uc003hcz.2_Missense_Mutation_p.H329I|EPHA5_uc011cah.1_Missense_Mutation_p.H329I|EPHA5_uc011cai.1_Missense_Mutation_p.H329I|EPHA5_uc003hda.2_Missense_Mutation_p.H329I	p.H329I	NM_004439	NP_004430	P54756	EPHA5_HUMAN			4	1178_1179	-			329			Extracellular (Potential).|Cys-rich.		Q7Z3F2	Missense_Mutation	DNP	ENST00000273854.3	37	c.985_986CA>AT	CCDS3513.1																																																																																				0.465	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		39	74	0	0	0	0	39	74				
TMPRSS11D	9407	broad.mit.edu	37	4	68703947	68703947	+	Nonsense_Mutation	SNP	G	G	A	rs201111407		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:68703947G>A	ENST00000283916.6	-	5	516	c.418C>T	c.(418-420)Cga>Tga	p.R140*	TMPRSS11D_ENST00000545541.1_Nonsense_Mutation_p.R23*|TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	140	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGCATTTGTCGTAAAACAGAC	0.333																																						uc003hdq.2		NA																	0				ovary(1)	1						c.(418-420)CGA>TGA		transmembrane protease, serine 11D							104.0	98.0	100.0					4																	68703947		2202	4300	6502	SO:0001587	stop_gained	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68703947G>A	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.418C>T	4.37:g.68703947G>A	ENSP00000283916:p.Arg140*					LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_Nonsense_Mutation_p.R23*	p.R140*	NM_004262	NP_004253	O60235	TM11D_HUMAN			5	483	-			140			SEA.|Extracellular (Potential).		Q08AF6	Nonsense_Mutation	SNP	ENST00000283916.6	37	c.418C>T	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138662	0.56936	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	.	.	.	5.16	2.3	0.28687	.	2.186130	0.01558	N	0.019982	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	7.1255	0.25469	0.0:0.1667:0.4895:0.3438	.	.	.	.	X	140;23	.	ENSP00000283916:R140X	R	-	1	2	TMPRSS11D	68386542	0.213000	0.23551	0.069000	0.20011	0.012000	0.07955	0.247000	0.18179	1.294000	0.44707	-0.152000	0.13540	CGA		0.333	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		19	31	0	0	0	0	19	31				
UGT2B7	7364	broad.mit.edu	37	4	69978401	69978401	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:69978401C>G	ENST00000305231.7	+	6	1583	c.1537C>G	c.(1537-1539)Ctg>Gtg	p.L513V	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	513					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)	AAAATGTTGTCTGTTTTGTTT	0.413																																						uc003heg.3		NA																	0				ovary(1)|skin(1)	2						c.(1537-1539)CTG>GTG		UDP glucuronosyltransferase 2B7 precursor							164.0	158.0	160.0					4																	69978401		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978401C>G	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	ENST00000305231.7:c.1537C>G	4.37:g.69978401C>G	ENSP00000304811:p.Leu513Val					UGT2B7_uc010ihq.2_3'UTR	p.L513V	NM_001074	NP_001065	P16662	UD2B7_HUMAN			6	1583	+			513					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1537C>G	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608297	0.28623	.	.	ENSG00000171234	ENST00000305231	T	0.61158	0.13	2.13	1.24	0.21308	.	0.945550	0.08600	U	0.921725	T	0.64886	0.2639	M	0.76838	2.35	0.09310	N	1	P	0.42584	0.784	P	0.52267	0.694	T	0.56625	-0.7948	9	.	.	.	.	2.2907	0.04137	0.3059:0.5077:0.0:0.1864	.	513	P16662	UD2B7_HUMAN	V	513	ENSP00000304811:L513V	.	L	+	1	2	UGT2B7	70012990	0.000000	0.05858	0.111000	0.21465	0.310000	0.27922	-1.663000	0.01968	1.192000	0.43071	0.306000	0.20318	CTG		0.413	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		37	46	0	0	0	0	37	46				
UGT2B28	54490	broad.mit.edu	37	4	70152479	70152479	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:70152479G>C	ENST00000335568.5	+	3	882	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E294Q	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GGAAATGGAGGAATTTGTACA	0.383																																						uc003hej.2		NA																	0				skin(1)	1						c.(880-882)GAA>CAA		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						124.0	142.0	136.0					4																	70152479		2068	4254	6322	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152479G>C	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.880G>C	4.37:g.70152479G>C	ENSP00000334276:p.Glu294Gln					UGT2B28_uc010ihr.2_Missense_Mutation_p.E294Q	p.E294Q	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			3	882	+			294					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.880G>C	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	10.11	1.260646	0.23051	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.63417	-0.04;-0.04	1.85	0.938	0.19500	.	0.348573	0.25723	N	0.028740	T	0.65026	0.2652	M	0.72894	2.215	0.23050	N	0.998374	P;P	0.50066	0.735;0.931	B;P	0.54590	0.444;0.756	T	0.55134	-0.8188	10	0.66056	D	0.02	.	3.4358	0.07445	0.4241:0.0:0.5759:0.0	.	294;294	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	Q	294	ENSP00000334276:E294Q;ENSP00000427399:E294Q	ENSP00000334276:E294Q	E	+	1	0	UGT2B28	70187068	1.000000	0.71417	0.938000	0.37757	0.013000	0.08279	3.079000	0.50104	1.023000	0.39654	0.184000	0.17185	GAA		0.383	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		57	104	0	0	0	0	57	104				
TRMT10A	93587	broad.mit.edu	37	4	100475021	100475021	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:100475021T>C	ENST00000273962.3	-	6	878	c.566A>G	c.(565-567)gAt>gGt	p.D189G	TRMT10A_ENST00000394876.2_Missense_Mutation_p.D189G|TRMT10A_ENST00000394877.3_Missense_Mutation_p.D189G	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	189	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										ATTAGGTGAATCTGACGTAAG	0.338																																						uc003huy.2		NA																	0				ovary(2)|breast(1)	3						c.(565-567)GAT>GGT		RNA (guanine-9-) methyltransferase domain							149.0	143.0	145.0					4																	100475021		2203	4299	6502	SO:0001583	missense	93587						methyltransferase activity	g.chr4:100475021T>C	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.566A>G	4.37:g.100475021T>C	ENSP00000273962:p.Asp189Gly					RG9MTD2_uc003huz.3_Missense_Mutation_p.D189G|RG9MTD2_uc003hva.3_Missense_Mutation_p.D189G	p.D189G	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)	6	879	-			189					B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.566A>G	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668632	0.88348	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.64	5.64	0.86602	.	0.087523	0.85682	D	0.000000	T	0.64136	0.2571	H	0.95079	3.62	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.75988	-0.3123	10	0.87932	D	0	-33.3271	16.0238	0.80522	0.0:0.0:0.0:1.0	.	189	Q8TBZ6	RG9D2_HUMAN	G	189	ENSP00000378343:D189G;ENSP00000273962:D189G;ENSP00000378342:D189G;ENSP00000397551:D189G;ENSP00000423628:D189G	ENSP00000273962:D189G	D	-	2	0	RG9MTD2	100694044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.363000	0.79516	2.367000	0.80283	0.528000	0.53228	GAT		0.338	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		31	7	0	0	0	0	31	7				
ANKRD50	57182	broad.mit.edu	37	4	125592804	125592804	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:125592804G>C	ENST00000504087.1	-	4	2665	c.1628C>G	c.(1627-1629)tCa>tGa	p.S543*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.S364*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	543										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCTCCCATTTGAATCACACTG	0.398																																						uc003ifg.3		NA																	0				central_nervous_system(1)	1						c.(1627-1629)TCA>TGA		ankyrin repeat domain 50							124.0	122.0	122.0					4																	125592804		2203	4300	6503	SO:0001587	stop_gained	57182							g.chr4:125592804G>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1628C>G	4.37:g.125592804G>C	ENSP00000425658:p.Ser543*					ANKRD50_uc011cgo.1_Nonsense_Mutation_p.S364*|ANKRD50_uc010inw.2_Nonsense_Mutation_p.S543*	p.S543*	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	1894	-			543					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Nonsense_Mutation	SNP	ENST00000504087.1	37	c.1628C>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	46	12.612072	0.99682	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.4479	0.90691	0.0:0.0:1.0:0.0	.	.	.	.	X	543;364	.	ENSP00000425658:S543X	S	-	2	0	ANKRD50	125812254	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	7.168000	0.77570	2.590000	0.87494	0.555000	0.69702	TCA		0.398	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		42	11	0	0	0	0	42	11				
SNX25	83891	broad.mit.edu	37	4	186188282	186188282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:186188282C>T	ENST00000504273.1	+	5	866	c.572C>T	c.(571-573)tCt>tTt	p.S191F	SNX25_ENST00000264694.8_Missense_Mutation_p.S191F			Q9H3E2	SNX25_HUMAN	sorting nexin 25	191					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AACAGCAACTCTGATGTGGAG	0.438																																						uc003ixh.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(571-573)TCT>TTT		sorting nexin 25							124.0	120.0	121.0					4																	186188282		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186188282C>T	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.572C>T	4.37:g.186188282C>T	ENSP00000426255:p.Ser191Phe						p.S191F	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	5	761	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	191					Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.572C>T	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962220	0.53400	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.11277	2.79;2.79	4.9	4.9	0.64082	.	0.286512	0.34156	N	0.004204	T	0.13200	0.0320	L	0.44542	1.39	0.47374	D	0.999408	B	0.02656	0.0	B	0.04013	0.001	T	0.04320	-1.0960	10	0.72032	D	0.01	-7.8722	18.2534	0.90011	0.0:1.0:0.0:0.0	.	191	Q9H3E2	SNX25_HUMAN	F	191	ENSP00000426255:S191F;ENSP00000264694:S191F	ENSP00000264694:S191F	S	+	2	0	SNX25	186425276	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	4.396000	0.59684	2.541000	0.85698	0.655000	0.94253	TCT		0.438	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		15	51	0	0	0	0	15	51				
FAT1	2195	broad.mit.edu	37	4	187627830	187627830	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:187627830G>C	ENST00000441802.2	-	2	3361	c.3152C>G	c.(3151-3153)tCa>tGa	p.S1051*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1051	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATTACCAATGAACCAACAGG	0.483										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3151-3153)TCA>TGA		FAT tumor suppressor 1 precursor							143.0	141.0	142.0					4																	187627830		2002	4176	6178	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187627830G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3152C>G	4.37:g.187627830G>C	ENSP00000406229:p.Ser1051*	HNSCC(5;0.00058)				FAT1_uc010iso.1_Nonsense_Mutation_p.S1051*	p.S1051*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	3340	-			1051			Extracellular (Potential).|Cadherin 9.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.3152C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	40	8.043314	0.98624	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.99	4.13	0.48395	.	0.267224	0.34676	N	0.003770	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.4302	0.75087	0.0:0.1395:0.8605:0.0	.	.	.	.	X	1051	.	ENSP00000260147:S1051X	S	-	2	0	FAT1	187864824	1.000000	0.71417	0.003000	0.11579	0.005000	0.04900	7.825000	0.86693	1.293000	0.44690	0.591000	0.81541	TCA		0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		51	26	0	0	0	0	51	26				
LPCAT1	79888	broad.mit.edu	37	5	1489929	1489929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:1489929G>A	ENST00000283415.3	-	4	670	c.538C>T	c.(538-540)Cag>Tag	p.Q180*		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	180					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CGAGAATCCTGGTCTGACCGG	0.557																																						uc003jcm.2		NA																	0				ovary(2)	2						c.(538-540)CAG>TAG		lysophosphatidylcholine acyltransferase 1							212.0	212.0	212.0					5																	1489929		2203	4300	6503	SO:0001587	stop_gained	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1489929G>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.538C>T	5.37:g.1489929G>A	ENSP00000283415:p.Gln180*						p.Q180*	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	4	655	-			180			Lumenal (Potential).		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Nonsense_Mutation	SNP	ENST00000283415.3	37	c.538C>T	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871558	0.91587	.	.	ENSG00000153395	ENST00000283415	.	.	.	4.49	3.61	0.41365	.	0.114028	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-12.6497	13.7237	0.62745	0.0:0.0:0.8445:0.1555	.	.	.	.	X	180	.	ENSP00000283415:Q180X	Q	-	1	0	LPCAT1	1542929	1.000000	0.71417	0.996000	0.52242	0.586000	0.36452	6.746000	0.74866	0.868000	0.35678	0.561000	0.74099	CAG		0.557	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		20	479	0	0	0	0	20	479				
ICE1	23379	broad.mit.edu	37	5	5463028	5463028	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:5463028C>G	ENST00000296564.7	+	13	3803	c.3581C>G	c.(3580-3582)tCt>tGt	p.S1194C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1194					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GACTCTGTTTCTGAATGTTCT	0.378																																						uc003jdm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3580-3582)TCT>TGT		hypothetical protein LOC23379							70.0	61.0	64.0					5																	5463028		1820	4086	5906	SO:0001583	missense	23379							g.chr5:5463028C>G																												ENST00000296564.7:c.3581C>G	5.37:g.5463028C>G	ENSP00000296564:p.Ser1194Cys						p.S1194C	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	3803	+			1194					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.3581C>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715872	0.48622	.	.	ENSG00000164151	ENST00000296564	T	0.11821	2.74	5.0	2.9	0.33743	.	.	.	.	.	T	0.19046	0.0457	L	0.27053	0.805	0.19775	N	0.99995	D	0.89917	1.0	D	0.68353	0.957	T	0.08371	-1.0725	9	0.51188	T	0.08	-9.3122	4.8682	0.13618	0.0:0.6813:0.0:0.3187	.	1194	Q9Y2F5	K0947_HUMAN	C	1194	ENSP00000296564:S1194C	ENSP00000296564:S1194C	S	+	2	0	KIAA0947	5516028	0.005000	0.15991	0.476000	0.27291	0.655000	0.38815	0.293000	0.19029	1.074000	0.40909	0.305000	0.20034	TCT		0.378	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			6	41	0	0	0	0	6	41				
DNAH5	1767	broad.mit.edu	37	5	13901563	13901563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:13901563G>A	ENST00000265104.4	-	14	1954	c.1850C>T	c.(1849-1851)gCt>gTt	p.A617V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	617	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGTTTCGAGCCAGAGGAGG	0.478									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1849-1851)GCT>GTT		dynein, axonemal, heavy chain 5							66.0	63.0	64.0					5																	13901563		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13901563G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1850C>T	5.37:g.13901563G>A	ENSP00000265104:p.Ala617Val						p.A617V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			14	1892	-	Lung NSC(4;0.00476)		617			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1850C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631136	0.46944	.	.	ENSG00000039139	ENST00000265104	T	0.56275	0.47	5.55	1.56	0.23342	Dynein heavy chain, domain-1 (1);	0.329424	0.30840	N	0.008765	T	0.51041	0.1651	L	0.46670	1.46	0.43719	D	0.996199	B	0.14805	0.011	B	0.32149	0.141	T	0.44112	-0.9349	10	0.18710	T	0.47	.	20.5812	0.99389	0.0:0.6714:0.3286:0.0	.	617	Q8TE73	DYH5_HUMAN	V	617	ENSP00000265104:A617V	ENSP00000265104:A617V	A	-	2	0	DNAH5	13954563	0.988000	0.35896	0.996000	0.52242	0.907000	0.53573	1.068000	0.30629	-0.003000	0.14444	0.491000	0.48974	GCT		0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		18	79	0	0	0	0	18	79				
CDH10	1008	broad.mit.edu	37	5	24535254	24535254	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:24535254C>T	ENST00000264463.4	-	5	1288	c.781G>A	c.(781-783)Gat>Aat	p.D261N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	261	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCATTGACATCTGTCAGCGTG	0.478										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(781-783)GAT>AAT		cadherin 10, type 2 preproprotein							188.0	151.0	163.0					5																	24535254		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535254C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.781G>A	5.37:g.24535254C>T	ENSP00000264463:p.Asp261Asn	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.D261N	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	5	1113	-			261			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.781G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377297	0.82682	.	.	ENSG00000040731	ENST00000264463	D	0.84298	-1.83	5.67	5.67	0.87782	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.93530	0.7935	M	0.87180	2.865	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	D	0.94149	0.7404	10	0.87932	D	0	.	18.738	0.91763	0.0:1.0:0.0:0.0	.	261	Q9Y6N8	CAD10_HUMAN	N	261	ENSP00000264463:D261N	ENSP00000264463:D261N	D	-	1	0	CDH10	24571011	1.000000	0.71417	0.392000	0.26245	0.227000	0.25037	7.818000	0.86416	2.674000	0.91012	0.591000	0.81541	GAT		0.478	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		8	135	0	0	0	0	8	135				
PDZD2	23037	broad.mit.edu	37	5	32037403	32037403	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:32037403C>G	ENST00000438447.1	+	7	1862	c.1474C>G	c.(1474-1476)Ccc>Gcc	p.P492A	PDZD2_ENST00000282493.3_Missense_Mutation_p.P492A			O15018	PDZD2_HUMAN	PDZ domain containing 2	492					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTGGAAAGTCCCAAACAGGG	0.522																																						uc003jhl.2		NA																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(1474-1476)CCC>GCC		PDZ domain containing 2							77.0	75.0	76.0					5																	32037403		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32037403C>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1474C>G	5.37:g.32037403C>G	ENSP00000402033:p.Pro492Ala					PDZD2_uc003jhm.2_Missense_Mutation_p.P492A|PDZD2_uc011cnx.1_Missense_Mutation_p.P318A	p.P492A	NM_178140	NP_835260	O15018	PDZD2_HUMAN			7	1862	+			492					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.1474C>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233625	0.79688	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.10192	2.9;2.9	5.37	5.37	0.77165	.	0.000000	0.50627	D	0.000114	T	0.21468	0.0517	L	0.29908	0.895	0.46798	D	0.999208	D;D	0.89917	0.998;1.0	P;D	0.87578	0.862;0.998	T	0.00875	-1.1531	10	0.34782	T	0.22	.	14.9995	0.71462	0.0:1.0:0.0:0.0	.	318;492	B4E3P2;O15018	.;PDZD2_HUMAN	A	492	ENSP00000402033:P492A;ENSP00000282493:P492A	ENSP00000282493:P492A	P	+	1	0	PDZD2	32073160	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.439000	0.52878	2.683000	0.91414	0.655000	0.94253	CCC		0.522	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	78	0	0	0	0	6	78				
RANBP3L	202151	broad.mit.edu	37	5	36251436	36251436	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:36251436G>T	ENST00000296604.3	-	13	1818	c.1333C>A	c.(1333-1335)Caa>Aaa	p.Q445K	RANBP3L_ENST00000502994.1_Missense_Mutation_p.Q470K	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	445					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TTAGTGACTTGGATGAAATCA	0.353																																						uc003jkh.2		NA																	0				ovary(1)	1						c.(1333-1335)CAA>AAA		RAN binding protein 3-like isoform 2							92.0	82.0	86.0					5																	36251436		2203	4300	6503	SO:0001583	missense	202151				intracellular transport			g.chr5:36251436G>T	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1333C>A	5.37:g.36251436G>T	ENSP00000296604:p.Gln445Lys					RANBP3L_uc011cow.1_Missense_Mutation_p.Q470K	p.Q445K	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		13	1826	-	all_lung(31;4.52e-05)		445					B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	c.1333C>A	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	G	6.505	0.461431	0.12342	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.21031	2.03;2.04	5.57	0.171	0.15026	.	0.548613	0.19134	N	0.121876	T	0.16257	0.0391	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.21143	-1.0254	10	0.36615	T	0.2	-0.7201	11.8282	0.52280	0.0:0.1012:0.3917:0.5071	.	470;445	E9PGP9;Q86VV4	.;RNB3L_HUMAN	K	445;470	ENSP00000296604:Q445K;ENSP00000421853:Q470K	ENSP00000296604:Q445K	Q	-	1	0	RANBP3L	36287193	0.606000	0.26949	0.003000	0.11579	0.544000	0.35116	0.808000	0.27154	0.076000	0.16826	-0.152000	0.13540	CAA		0.353	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		4	106	1	0	8.13e-05	8.55e-05	4	106				
C5orf28	64417	broad.mit.edu	37	5	43453838	43453838	+	Silent	SNP	T	T	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:43453838T>A	ENST00000500337.2	-	4	565	c.234A>T	c.(232-234)ggA>ggT	p.G78G	C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000537319.1_Intron|C5orf28_ENST00000397080.3_Silent_p.G78G|C5orf28_ENST00000510130.1_Intron|C5orf28_ENST00000512085.1_Silent_p.G78G			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	78						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAATGATTTCTCCAAAGTCAG	0.393																																						uc003jny.2		NA																	0					0						c.(232-234)GGA>GGT		hypothetical protein LOC64417							109.0	107.0	108.0					5																	43453838		2203	4300	6503	SO:0001819	synonymous_variant	64417					integral to membrane		g.chr5:43453838T>A	AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.234A>T	5.37:g.43453838T>A						C5orf28_uc003jnv.3_Silent_p.G78G|C5orf28_uc003jnx.2_Silent_p.G78G	p.G78G	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN			2	377	-	Lung NSC(6;2.07e-05)		78			Helical; (Potential).		B2RDA6|Q9H6Z2	Silent	SNP	ENST00000500337.2	37	c.234A>T	CCDS3945.1																																																																																				0.393	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483		33	128	0	0	0	0	33	128				
CMYA5	202333	broad.mit.edu	37	5	79095241	79095241	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:79095241G>A	ENST00000446378.2	+	13	12043	c.12012G>A	c.(12010-12012)gaG>gaA	p.E4004E	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4004	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGTGACTGAGCGTCCAGCCA	0.443																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(12010-12012)GAG>GAA		cardiomyopathy associated 5							127.0	117.0	120.0					5																	79095241		1994	4173	6167	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79095241G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.12012G>A	5.37:g.79095241G>A							p.E4004E	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	13	12084	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	4004			B30.2/SPRY.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.12012G>A	CCDS47238.1																																																																																				0.443	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		7	45	0	0	0	0	7	45				
HAPLN1	1404	broad.mit.edu	37	5	82940335	82940335	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:82940335C>A	ENST00000274341.4	-	4	1472	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	208	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CTGAGCCAGCCGGCATTGCAC	0.622																																						uc003kim.2		NA																	0				large_intestine(3)|ovary(1)|skin(1)	5						c.(622-624)GGC>TGC		hyaluronan and proteoglycan link protein 1							42.0	47.0	45.0					5																	82940335		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940335C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.622G>T	5.37:g.82940335C>A	ENSP00000274341:p.Gly208Cys					HAPLN1_uc003kin.2_Missense_Mutation_p.G208C	p.G208C	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	3	693	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	208			Link 1.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.622G>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958140	0.92726	.	.	ENSG00000145681	ENST00000274341;ENST00000510978	T;T	0.29142	1.58;1.58	5.8	5.8	0.92144	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83490	0.0069	10	0.87932	D	0	.	20.0608	0.97674	0.0:1.0:0.0:0.0	.	208	P10915	HPLN1_HUMAN	C	208	ENSP00000274341:G208C;ENSP00000422592:G208C	ENSP00000274341:G208C	G	-	1	0	HAPLN1	82976091	1.000000	0.71417	0.979000	0.43373	0.929000	0.56500	7.487000	0.81328	2.733000	0.93635	0.650000	0.86243	GGC		0.622	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		46	11	1	0	1.42e-22	1.6e-22	46	11				
LOX	4015	broad.mit.edu	37	5	121411146	121411146	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:121411146G>A	ENST00000231004.4	-	3	1130	c.831C>T	c.(829-831)ttC>ttT	p.F277F	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_3'UTR	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	277	Lysyl-oxidase like.				blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GGCTGGGTAAGAAATCTGATG	0.453																																						uc003ksu.2		NA																	0				lung(1)	1						c.(829-831)TTC>TTT		lysyl oxidase preproprotein							133.0	128.0	129.0					5																	121411146		2203	4300	6503	SO:0001819	synonymous_variant	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121411146G>A		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.831C>T	5.37:g.121411146G>A						LOX_uc010jcp.2_5'Flank|LOX_uc010jcq.2_5'UTR|LOX_uc011cwk.1_Silent_p.F47F|LOX_uc010jcr.2_5'UTR	p.F277F	NM_002317	NP_002308	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	3	1206	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	277			Lysyl-oxidase like.		B2R5Q3|Q5FWF0	Silent	SNP	ENST00000231004.4	37	c.831C>T	CCDS4129.1																																																																																				0.453	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			13	75	0	0	0	0	13	75				
RAPGEF6	51735	broad.mit.edu	37	5	130897699	130897699	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:130897699A>T	ENST00000509018.1	-	5	528	c.323T>A	c.(322-324)cTt>cAt	p.L108H	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.L108H|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.L108H|RAPGEF6_ENST00000503398.2_Intron|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.L158H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.L108H|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.L108H|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.L108H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	108					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTCTAATACAAGACAATCACA	0.274																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(322-324)CTT>CAT		PDZ domain-containing guanine nucleotide							140.0	145.0	143.0					5																	130897699		2203	4297	6500	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130897699A>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.323T>A	5.37:g.130897699A>T	ENSP00000421684:p.Leu108His					RAPGEF6_uc003kvp.1_Missense_Mutation_p.L158H|RAPGEF6_uc003kvo.1_Missense_Mutation_p.L108H|RAPGEF6_uc010jdi.1_Missense_Mutation_p.L108H|RAPGEF6_uc010jdj.1_Missense_Mutation_p.L108H|RAPGEF6_uc003kvr.2_Missense_Mutation_p.L108H|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.L108H	p.L108H	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	5	529	-			108					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.323T>A	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621807	0.87460	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.244017	0.33235	N	0.005128	T	0.39064	0.1064	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D;D	0.76494	0.992;0.992;0.999;0.992;0.996;0.983	P;P;D;P;P;P	0.64595	0.789;0.789;0.927;0.789;0.896;0.711	T	0.13791	-1.0496	10	0.87932	D	0	.	13.9416	0.64059	1.0:0.0:0.0:0.0	.	108;108;108;158;108;108	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	H	108;108;108;108;108;108;108;158	ENSP00000421684:L108H;ENSP00000309298:L108H;ENSP00000426081:L108H;ENSP00000296859:L108H;ENSP00000311419:L108H;ENSP00000425389:L108H;ENSP00000426948:L158H	ENSP00000426948:L158H	L	-	2	0	RAPGEF6;FNIP1	130925598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.871000	0.75531	2.278000	0.76064	0.533000	0.62120	CTT		0.274	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		63	12	0	0	0	0	63	12				
PCDHA8	56140	broad.mit.edu	37	5	140222091	140222091	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:140222091C>G	ENST00000531613.1	+	1	1185	c.1185C>G	c.(1183-1185)ttC>ttG	p.F395L	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.F395L|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	395	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTCCCCTTCAAGCTGGTGT	0.577																																						uc003lhs.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1183-1185)TTC>TTG		protocadherin alpha 8 isoform 1 precursor							163.0	150.0	154.0					5																	140222091		2203	4300	6503	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222091C>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1185C>G	5.37:g.140222091C>G	ENSP00000434655:p.Phe395Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.F395L	p.F395L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1185	+			395			Cadherin 4.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1185C>G	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996808	0.54147	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.50548	0.74;0.74	3.57	1.74	0.24563	Cadherin (4);Cadherin-like (1);	0.000000	0.38272	U	0.001760	T	0.70325	0.3211	M	0.92268	3.29	0.29987	N	0.81722	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67440	-0.5670	10	0.87932	D	0	.	7.162	0.25669	0.0:0.7131:0.0:0.2869	.	395;395	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	395	ENSP00000434655:F395L;ENSP00000367363:F395L	ENSP00000367363:F395L	F	+	3	2	PCDHA8	140202275	0.000000	0.05858	0.994000	0.49952	0.606000	0.37113	-0.253000	0.08794	0.157000	0.19338	0.306000	0.20318	TTC		0.577	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		43	192	0	0	0	0	43	192				
HDAC3	8841	broad.mit.edu	37	5	141009429	141009429	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:141009429C>T	ENST00000305264.3	-	5	497	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	140	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TCACTCACCTCAAACTTCTTG	0.517																																						uc003llf.2		NA																	0				ovary(1)	1						c.(418-420)GAG>AAG		histone deacetylase 3	Vorinostat(DB02546)						122.0	102.0	109.0					5																	141009429		2203	4300	6503	SO:0001583	missense	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141009429C>T	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.418G>A	5.37:g.141009429C>T	ENSP00000302967:p.Glu140Lys					HDAC3_uc003lle.1_Missense_Mutation_p.E83K|HDAC3_uc010jgd.1_Missense_Mutation_p.E65K|HDAC3_uc010jge.1_Intron	p.E140K	NM_003883	NP_003874	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	484	-			140			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	c.418G>A	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226990	0.95173	.	.	ENSG00000171720	ENST00000305264;ENST00000523088	T;T	0.70045	-0.45;-0.45	5.72	5.72	0.89469	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.81744	0.4887	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	T	0.82615	-0.0370	10	0.87932	D	0	-24.3249	19.4739	0.94976	0.0:1.0:0.0:0.0	.	65;140	E7ESJ6;O15379	.;HDAC3_HUMAN	K	140;65	ENSP00000302967:E140K;ENSP00000429099:E65K	ENSP00000302967:E140K	E	-	1	0	HDAC3	140989613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.605000	0.82844	2.708000	0.92522	0.650000	0.86243	GAG		0.517	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		9	50	0	0	0	0	9	50				
ZBED8	63920	broad.mit.edu	37	5	159821613	159821613	+	Silent	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:159821613C>G	ENST00000408953.3	-	2	1392	c.885G>C	c.(883-885)gtG>gtC	p.V295V	C5orf54_ENST00000523213.1_Silent_p.V295V	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ttattaccctcaccacagtaa	0.378																																						uc003lye.1		NA																	0				pancreas(1)	1						c.(883-885)GTG>GTC		transposon-derived Buster3 transposase-like							122.0	122.0	122.0					5																	159821613		2203	4300	6503	SO:0001819	synonymous_variant	63920							g.chr5:159821613C>G																												ENST00000408953.3:c.885G>C	5.37:g.159821613C>G						C5orf54_uc003lyf.1_Silent_p.V295V	p.V295V	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN			2	1349	-			295						Silent	SNP	ENST00000408953.3	37	c.885G>C	CCDS34283.1																																																																																				0.378	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			28	92	0	0	0	0	28	92				
NSD1	64324	broad.mit.edu	37	5	176618931	176618931	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr5:176618931A>T	ENST00000439151.2	+	3	1019	c.974A>T	c.(973-975)gAt>gTt	p.D325V	NSD1_ENST00000347982.4_Missense_Mutation_p.D56V|NSD1_ENST00000361032.4_Intron|NSD1_ENST00000354179.4_Missense_Mutation_p.D56V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	325	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAAGTTGGAGATCTCATCTGG	0.388			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(973-975)GAT>GTT		nuclear receptor binding SET domain protein 1							93.0	94.0	94.0					5																	176618931		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176618931A>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.974A>T	5.37:g.176618931A>T	ENSP00000395929:p.Asp325Val	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.D56V|NSD1_uc003mfs.1_Intron|NSD1_uc011dfx.1_5'UTR|NSD1_uc003mfp.2_Missense_Mutation_p.D325V	p.D325V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	3	1112	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	325			PWWP 1.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.974A>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338668	0.60963	.	.	ENSG00000165671	ENST00000510954;ENST00000354179;ENST00000355783;ENST00000508896;ENST00000439151;ENST00000347982	T;T;T;T;T	0.75938	-0.97;-0.98;-0.98;-0.98;-0.98	5.44	5.44	0.79542	PWWP (3);	0.262826	0.26352	N	0.024879	D	0.84982	0.5593	M	0.81497	2.545	0.52099	D	0.999944	D;D	0.63046	0.989;0.992	P;D	0.63283	0.858;0.913	D	0.86906	0.2057	10	0.66056	D	0.02	.	13.7193	0.62717	1.0:0.0:0.0:0.0	.	56;325	Q96L73-2;Q96L73	.;NSD1_HUMAN	V	56;56;56;56;325;56	ENSP00000423982:D56V;ENSP00000346111:D56V;ENSP00000423372:D56V;ENSP00000395929:D325V;ENSP00000343209:D56V	ENSP00000343209:D56V	D	+	2	0	NSD1	176551537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.046000	0.71029	2.074000	0.62210	0.482000	0.46254	GAT		0.388	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		41	16	0	0	0	0	41	16				
C6orf195	154386	broad.mit.edu	37	6	2623874	2623874	+	Silent	SNP	G	G	A	rs547228602		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:2623874G>A	ENST00000296847.3	-	3	706	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	61								p.P61P(2)		cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGCCGGACCCGGGAGGGGAGA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		18566	0.0		0.001	False		,,,				2504	0.0					uc003mtw.2		NA																	2	Substitution - coding silent(2)		cervix(1)|endometrium(1)		0						c.(181-183)CCC>CCT		hypothetical protein LOC154386							61.0	70.0	67.0					6																	2623874		2002	4158	6160	SO:0001819	synonymous_variant	154386							g.chr6:2623874G>A	AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.183C>T	6.37:g.2623874G>A							p.P61P	NM_152554	NP_689767	Q96MT4	CF195_HUMAN			3	1168	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	61					Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Silent	SNP	ENST00000296847.3	37	c.183C>T	CCDS43416.1																																																																																				0.632	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039633.1	NM_152554		46	73	0	0	0	0	46	73				
PAK1IP1	55003	broad.mit.edu	37	6	10707670	10707670	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:10707670G>C	ENST00000379568.3	+	8	1054	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	255					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				GTTCAGTTTTGAAATTCCAGA	0.333																																						uc003mzg.2		NA																	0					0						c.(763-765)GAA>CAA		PAK1 interacting protein 1							230.0	212.0	218.0					6																	10707670		2203	4300	6503	SO:0001583	missense	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10707670G>C	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.763G>C	6.37:g.10707670G>C	ENSP00000368887:p.Glu255Gln						p.E255Q	NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN			8	794	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)	255			WD 5.		Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	ENST00000379568.3	37	c.763G>C	CCDS34339.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329364	0.60743	.	.	ENSG00000111845	ENST00000379568	T	0.51325	0.71	5.76	3.93	0.45458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.329626	0.35739	N	0.003019	T	0.27832	0.0685	L	0.39514	1.22	0.35438	D	0.794608	B	0.32467	0.372	B	0.39771	0.309	T	0.07908	-1.0748	10	0.27082	T	0.32	-15.2911	14.3229	0.66499	0.0:0.2829:0.7171:0.0	.	255	Q9NWT1	PK1IP_HUMAN	Q	255	ENSP00000368887:E255Q	ENSP00000368887:E255Q	E	+	1	0	PAK1IP1	10815656	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	1.415000	0.34748	0.731000	0.32448	0.655000	0.94253	GAA		0.333	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906		22	90	0	0	0	0	22	90				
HIST1H1C	3006	broad.mit.edu	37	6	26056153	26056153	+	Missense_Mutation	SNP	C	C	G	rs534420299		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:26056153C>G	ENST00000343677.2	-	1	546	c.504G>C	c.(502-504)aaG>aaC	p.K168N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	168					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TAGCCACTTTCTTGGTTACAG	0.572																																						uc003nfw.2		NA																	0				ovary(3)|skin(2)	5						c.(502-504)AAG>AAC		histone cluster 1, H1c							94.0	108.0	103.0					6																	26056153		2203	4300	6503	SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056153C>G	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.504G>C	6.37:g.26056153C>G	ENSP00000339566:p.Lys168Asn						p.K168N	NM_005319	NP_005310	P16403	H12_HUMAN			1	547	-			168					A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	c.504G>C	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598340	0.46318	.	.	ENSG00000187837	ENST00000343677	T	0.23552	1.9	5.3	3.49	0.39957	.	0.320741	0.27366	N	0.019699	T	0.19525	0.0469	N	0.19112	0.55	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.02713	-1.1120	10	0.30854	T	0.27	-5.6891	11.719	0.51670	0.0:0.8524:0.0:0.1476	.	168	P16403	H12_HUMAN	N	168	ENSP00000339566:K168N	ENSP00000339566:K168N	K	-	3	2	HIST1H1C	26164132	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	2.333000	0.43912	0.708000	0.31955	0.650000	0.86243	AAG		0.572	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		61	27	0	0	0	0	61	27				
HIST1H2BK	85236	broad.mit.edu	37	6	27114365	27114365	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:27114365G>A	ENST00000356950.1	-	1	212	c.213C>T	c.(211-213)ttC>ttT	p.F71F	HIST1H2BK_ENST00000396891.4_Silent_p.F71F|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	71					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGATGCGTTCGAAGATGTCGT	0.602																																						uc003nix.1		NA																	0					0						c.(211-213)TTC>TTT		histone cluster 1, H2bk							148.0	140.0	143.0					6																	27114365		2203	4300	6503	SO:0001819	synonymous_variant	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114365G>A	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.213C>T	6.37:g.27114365G>A						HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.F71F	NM_080593	NP_542160	O60814	H2B1K_HUMAN			1	255	-			71					A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	c.213C>T	CCDS4621.1																																																																																				0.602	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		86	35	0	0	0	0	86	35				
TTBK1	84630	broad.mit.edu	37	6	43230556	43230556	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:43230556C>T	ENST00000259750.4	+	13	1537	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L	TTBK1_ENST00000304139.5_Missense_Mutation_p.S434L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	485					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCTCGCCCTCGCGCCAGGCC	0.677																																						uc003ouq.1		NA																	0				lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(1453-1455)TCG>TTG		tau tubulin kinase 1																																				SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43230556C>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1454C>T	6.37:g.43230556C>T	ENSP00000259750:p.Ser485Leu					TTBK1_uc011dvg.1_Missense_Mutation_p.S8L	p.S485L	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		13	1733	+			485					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.1454C>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180780	0.57800	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.54866	0.55	5.33	5.33	0.75918	.	0.118100	0.64402	D	0.000015	T	0.60483	0.2272	L	0.51422	1.61	0.49389	D	0.999787	D;P	0.71674	0.998;0.76	D;B	0.75484	0.986;0.122	T	0.61955	-0.6956	10	0.54805	T	0.06	.	15.9196	0.79552	0.0:1.0:0.0:0.0	.	8;485	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	L	434;485;434	ENSP00000259750:S485L	ENSP00000259750:S485L	S	+	2	0	TTBK1	43338534	1.000000	0.71417	0.933000	0.37362	0.951000	0.60555	7.162000	0.77515	2.502000	0.84385	0.436000	0.28706	TCG		0.677	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			5	4	0	0	0	0	5	4				
POPDC3	64208	broad.mit.edu	37	6	105606561	105606561	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:105606561G>A	ENST00000254765.3	-	4	938	c.660C>T	c.(658-660)ctC>ctT	p.L220L	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	220					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GCTGAGCAAAGAGCAGATATA	0.408																																						uc003prb.2		NA																	0				skin(3)|ovary(2)	5						c.(658-660)CTC>CTT		popeye protein 3							208.0	216.0	213.0					6																	105606561		2203	4300	6503	SO:0001819	synonymous_variant	64208					integral to membrane		g.chr6:105606561G>A	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.660C>T	6.37:g.105606561G>A						uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	p.L220L	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN			4	1062	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	220					B2RA98|Q5T3Y8|Q8TBW6	Silent	SNP	ENST00000254765.3	37	c.660C>T	CCDS5052.1																																																																																				0.408	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		46	89	0	0	0	0	46	89				
PRDM1	639	broad.mit.edu	37	6	106547390	106547390	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:106547390C>G	ENST00000369096.4	+	4	861	c.627C>G	c.(625-627)caC>caG	p.H209Q	PRDM1_ENST00000369091.2_Missense_Mutation_p.H173Q|PRDM1_ENST00000369089.3_Missense_Mutation_p.H75Q|RP1-134E15.3_ENST00000602426.1_RNA	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	209					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAAGGCTTCACTACCCTTATC	0.443			"""D, N, Mis, F, S"""		DLBCL																																	uc003prd.2		NA		Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(625-627)CAC>CAG		PR domain containing 1, with ZNF domain isoform							87.0	75.0	79.0					6																	106547390		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106547390C>G		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.627C>G	6.37:g.106547390C>G	ENSP00000358092:p.His209Gln					PRDM1_uc003pre.2_Missense_Mutation_p.H75Q	p.H209Q	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	4	861	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	209					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.627C>G	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256415	0.39896	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;T;T	0.55588	3.27;3.24;0.51;3.24	5.94	4.14	0.48551	.	0.256389	0.45126	N	0.000382	T	0.35653	0.0939	M	0.67953	2.075	0.48452	D	0.99965	B;B	0.14012	0.009;0.003	B;B	0.10450	0.005;0.001	T	0.37888	-0.9686	10	0.72032	D	0.01	-25.3232	11.7741	0.51975	0.0:0.81:0.1239:0.0661	.	75;209	Q86WM7;O75626	.;PRDM1_HUMAN	Q	173;209;173;88;75	ENSP00000358087:H173Q;ENSP00000358092:H209Q;ENSP00000399772:H88Q;ENSP00000358085:H75Q	ENSP00000358085:H75Q	H	+	3	2	PRDM1	106654083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.939000	0.40213	0.825000	0.34637	0.650000	0.86243	CAC		0.443	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			16	5	0	0	0	0	16	5				
SERAC1	84947	broad.mit.edu	37	6	158540196	158540196	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:158540196G>A	ENST00000367104.3	-	12	1304	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P	SERAC1_ENST00000367101.1_Silent_p.P391P|SERAC1_ENST00000367102.2_Silent_p.P391P	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	391					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CTGCTTTAATGGGCTGACTAA	0.423																																						uc003qrc.2		NA																	0					0						c.(1171-1173)CCC>CCT		serine active site containing 1							62.0	55.0	58.0					6																	158540196		2203	4300	6503	SO:0001819	synonymous_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158540196G>A	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1173C>T	6.37:g.158540196G>A						SERAC1_uc003qrb.2_Silent_p.P119P	p.P391P	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	12	1315	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	391					Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	c.1173C>T	CCDS5255.1																																																																																				0.423	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		2	5	0	0	0	0	2	5				
QKI	9444	broad.mit.edu	37	6	163984469	163984469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:163984469C>G	ENST00000361752.3	+	6	1203	c.652C>G	c.(652-654)Ctt>Gtt	p.L218V	QKI_ENST00000453779.2_Missense_Mutation_p.L218V|QKI_ENST00000392127.2_Missense_Mutation_p.L218V|QKI_ENST00000275262.7_Missense_Mutation_p.L218V|QKI_ENST00000424802.3_Intron|QKI_ENST00000361195.2_Intron	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	218					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)		TGCCTTTTCTCTTGCAGCAAC	0.498																																						uc003qui.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(652-654)CTT>GTT		quaking homolog, KH domain RNA binding isoform							37.0	38.0	38.0					6																	163984469		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.chr6:163984469C>G	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.652C>G	6.37:g.163984469C>G	ENSP00000355094:p.Leu218Val					QKI_uc003que.2_Missense_Mutation_p.L218V|QKI_uc003quf.2_Missense_Mutation_p.L218V|QKI_uc003qug.2_Missense_Mutation_p.L218V|QKI_uc003quh.2_Intron|QKI_uc003quj.2_Intron	p.L218V	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)	6	1203	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	218					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.652C>G	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.43|13.43	2.235270|2.235270	0.39498|0.39498	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000544823|ENST00000537883;ENST00000544361	.|.	.|.	.|.	6.02|6.02	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49915|0.49915	0.1585|0.1585	L|L	0.41710|0.41710	1.295|1.295	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.30914|.	0.199;0.3;0.3;0.3|.	B;B;B;B|.	0.35182|.	0.061;0.13;0.13;0.197|.	T|T	0.54323|0.54323	-0.8311|-0.8311	9|6	0.31617|0.48119	T|T	0.26|0.1	-2.4246|-2.4246	15.254|15.254	0.73571|0.73571	0.0:0.9332:0.0:0.0668|0.0:0.9332:0.0:0.0668	.|.	218;218;218;218|.	Q96PU8;Q96PU8-9;Q96PU8-6;Q96PU8-8|.	QKI_HUMAN;.;.;.|.	V|C	218;218;218;218;163|114;51	.|.	ENSP00000275262:L218V|ENSP00000441773:S114C	L|S	+|+	1|2	0|0	QKI|QKI	163904459|163904459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	1.569000|1.569000	0.49696|0.49696	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.498	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		3	20	0	0	0	0	3	20				
EIF3B	8662	broad.mit.edu	37	7	2412331	2412331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:2412331G>A	ENST00000360876.4	+	12	1767	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	EIF3B_ENST00000397011.2_Missense_Mutation_p.E571K	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CTTTGCCTGGGAACCAAATGG	0.438																																						uc003slx.2		NA																	0					0						c.(1711-1713)GAA>AAA		eukaryotic translation initiation factor 3,							127.0	112.0	117.0					7																	2412331		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2412331G>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1711G>A	7.37:g.2412331G>A	ENSP00000354125:p.Glu571Lys					EIF3B_uc003sly.2_Missense_Mutation_p.E571K|EIF3B_uc003sma.2_Missense_Mutation_p.E299K	p.E571K	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	12	1794	+		Ovarian(82;0.0253)	571			WD 4.			Missense_Mutation	SNP	ENST00000360876.4	37	c.1711G>A	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	G	36	5.691584	0.96793	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.05382	3.45;3.45	5.65	5.65	0.86999	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.31081	-0.9956	10	0.87932	D	0	-47.329	19.7319	0.96186	0.0:0.0:1.0:0.0	.	571	P55884	EIF3B_HUMAN	K	571;571;571;495	ENSP00000354125:E571K;ENSP00000380206:E571K	ENSP00000316638:E571K	E	+	1	0	EIF3B	2378857	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.619000	0.98369	2.668000	0.90789	0.655000	0.94253	GAA		0.438	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			11	24	0	0	0	0	11	24				
LFNG	3955	broad.mit.edu	37	7	2566545	2566545	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:2566545G>A	ENST00000222725.5	+	7	1083	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000359574.3_Missense_Mutation_p.D355N|LFNG_ENST00000338732.3_Missense_Mutation_p.D226N|LFNG_ENST00000402045.1_Missense_Mutation_p.D226N|LFNG_ENST00000402506.1_Missense_Mutation_p.D284N	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	355					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GGTGGAGGCCGACCCATCCAG	0.647																																						uc003smf.2		NA																	0					0						c.(1063-1065)GAC>AAC		lunatic fringe isoform a							31.0	32.0	32.0					7																	2566545		2202	4300	6502	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2566545G>A	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.1063G>A	7.37:g.2566545G>A	ENSP00000222725:p.Asp355Asn					LFNG_uc003smg.2_Missense_Mutation_p.D355N	p.D355N	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	7	1080	+		Ovarian(82;0.0112)	355			Lumenal (Potential).		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.1063G>A	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221157	0.79464	.	.	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	4.46	4.46	0.54185	.	0.045811	0.85682	D	0.000000	D	0.89670	0.6782	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.92885	0.6326	10	0.87932	D	0	-13.4797	17.1069	0.86666	0.0:0.0:1.0:0.0	.	355;355	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	N	284;226;226;355;355	ENSP00000385764:D284N;ENSP00000384786:D226N;ENSP00000343095:D226N;ENSP00000222725:D355N;ENSP00000352579:D355N	ENSP00000222725:D355N	D	+	1	0	LFNG	2533071	1.000000	0.71417	0.936000	0.37596	0.360000	0.29518	7.394000	0.79862	2.007000	0.58848	0.561000	0.74099	GAC		0.647	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		5	17	0	0	0	0	5	17				
THSD7A	221981	broad.mit.edu	37	7	11676325	11676325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:11676325C>T	ENST00000423059.4	-	2	705	c.454G>A	c.(454-456)Ggt>Agt	p.G152S	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	152					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACCTGAATACCTTCTTCCCCC	0.488										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(454-456)GGT>AGT		thrombospondin, type I, domain containing 7A							113.0	109.0	110.0					7																	11676325		1986	4187	6173	SO:0001583	missense	221981					integral to membrane		g.chr7:11676325C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.454G>A	7.37:g.11676325C>T	ENSP00000406482:p.Gly152Ser	HNSCC(18;0.044)					p.G152S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	706	-			152			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.454G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539701	0.85917	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.68181	-0.31	5.57	5.57	0.84162	.	0.000000	0.85682	U	0.000000	D	0.83275	0.5219	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84481	0.0605	10	0.87932	D	0	.	19.9278	0.97110	0.0:1.0:0.0:0.0	.	152	Q9UPZ6	THS7A_HUMAN	S	152	ENSP00000406482:G152S	ENSP00000262042:G152S	G	-	1	0	THSD7A	11642850	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	7.776000	0.85560	2.770000	0.95276	0.650000	0.86243	GGT		0.488	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		16	26	0	0	0	0	16	26				
ABCB5	340273	broad.mit.edu	37	7	20739693	20739693	+	Missense_Mutation	SNP	G	G	C	rs373783857		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:20739693G>C	ENST00000404938.2	+	19	2924	c.2272G>C	c.(2272-2274)Ggc>Cgc	p.G758R	ABCB5_ENST00000258738.6_Missense_Mutation_p.G313R	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	758	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATTATTTTACGGCAGAGCAGG	0.303																																						uc003suw.3		NA																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(937-939)GGC>CGC		ATP-binding cassette, sub-family B, member 5							88.0	89.0	89.0					7																	20739693		2203	4298	6501	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20739693G>C	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2272G>C	7.37:g.20739693G>C	ENSP00000384881:p.Gly758Arg					ABCB5_uc010kuh.2_Missense_Mutation_p.G758R	p.G313R	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			10	1483	+			313			Extracellular (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.937G>C	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972556	0.53614	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90504	-2.68;-2.68	5.28	4.33	0.51752	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000014	D	0.95404	0.8508	M	0.87682	2.9	0.48452	D	0.999653	D;D	0.89917	0.994;1.0	D;D	0.91635	0.947;0.999	D	0.95626	0.8685	10	0.87932	D	0	.	13.3953	0.60849	0.0:0.1592:0.8408:0.0	.	758;313	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	R	758;313	ENSP00000384881:G758R;ENSP00000258738:G313R	ENSP00000258738:G313R	G	+	1	0	ABCB5	20706218	1.000000	0.71417	0.998000	0.56505	0.575000	0.36095	4.300000	0.59079	2.617000	0.88574	0.585000	0.79938	GGC		0.303	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		26	59	0	0	0	0	26	59				
DNAH11	8701	broad.mit.edu	37	7	21678648	21678648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:21678648C>G	ENST00000409508.3	+	28	4940	c.4909C>G	c.(4909-4911)Ctt>Gtt	p.L1637V	DNAH11_ENST00000328843.6_Missense_Mutation_p.L1642V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1642	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGCTGATTTACTTGACATTCT	0.398									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(4924-4926)CTT>GTT		dynein, axonemal, heavy chain 11							143.0	139.0	140.0					7																	21678648		1875	4104	5979	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21678648C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4909C>G	7.37:g.21678648C>G	ENSP00000475939:p.Leu1637Val						p.L1642V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			28	4955	+			1642			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.4924C>G		.	.	.	.	.	.	.	.	.	.	C	19.65	3.868174	0.72065	.	.	ENSG00000105877	ENST00000328843	T	0.71579	-0.58	5.78	5.78	0.91487	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	.	.	.	0.51233	D	0.999917	P	0.49783	0.928	P	0.53035	0.716	T	0.82063	-0.0643	9	0.87932	D	0	.	18.7707	0.91890	0.0:1.0:0.0:0.0	.	1642	Q96DT5	DYH11_HUMAN	V	1642	ENSP00000330671:L1642V	ENSP00000330671:L1642V	L	+	1	0	DNAH11	21645173	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.484000	0.53201	2.729000	0.93468	0.650000	0.86243	CTT		0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		9	48	0	0	0	0	9	48				
GLI3	2737	broad.mit.edu	37	7	42079708	42079708	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:42079708C>T	ENST00000395925.3	-	7	1041	c.957G>A	c.(955-957)acG>acA	p.T319T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	319					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TATTGAGAATCGTGACCAAGG	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(955-957)ACG>ACA		GLI-Kruppel family member GLI3							186.0	161.0	170.0					7																	42079708		2203	4300	6503	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42079708C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.957G>A	7.37:g.42079708C>T						GLI3_uc011kbg.1_Silent_p.T260T	p.T319T	NM_000168	NP_000159	P10071	GLI3_HUMAN			7	1048	-			319					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.957G>A	CCDS5465.1																																																																																				0.468	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		7	52	0	0	0	0	7	52				
POLD2	5425	broad.mit.edu	37	7	44157600	44157600	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:44157600C>T	ENST00000406581.2	-	4	933	c.284G>A	c.(283-285)gGc>gAc	p.G95D	POLD2_ENST00000452185.1_Missense_Mutation_p.G95D|POLD2_ENST00000223361.3_Missense_Mutation_p.G95D	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	95					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GAACAGAGTGCCCACCACACA	0.617																																						uc010kxz.2		NA																	0				ovary(2)	2						c.(283-285)GGC>GAC		DNA-directed DNA polymerase delta 2							138.0	108.0	118.0					7																	44157600		2203	4300	6503	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44157600C>T		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.284G>A	7.37:g.44157600C>T	ENSP00000386105:p.Gly95Asp					POLD2_uc003tke.3_Missense_Mutation_p.G95D|POLD2_uc010kya.2_Missense_Mutation_p.G95D|POLD2_uc003tkf.3_Missense_Mutation_p.G95D	p.G95D	NM_006230	NP_006221	P49005	DPOD2_HUMAN			4	934	-			95					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.284G>A	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281223	0.95489	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000433715;ENST00000456038;ENST00000418438	T;T;T	0.76060	-0.7;-0.99;-0.7	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93126	0.6529	10	0.87932	D	0	-1.5453	17.9654	0.89099	0.0:1.0:0.0:0.0	.	95;95	P49005;F8W8R3	DPOD2_HUMAN;.	D	95	ENSP00000386105:G95D;ENSP00000223361:G95D;ENSP00000395231:G95D	ENSP00000223361:G95D	G	-	2	0	POLD2	44124125	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.604000	0.82830	2.317000	0.78254	0.563000	0.77884	GGC		0.617	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		3	59	0	0	0	0	3	59				
TNS3	64759	broad.mit.edu	37	7	47476871	47476871	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:47476871A>G	ENST00000398879.1	-	7	557	c.191T>C	c.(190-192)cTt>cCt	p.L64P	TNS3_ENST00000355730.3_Missense_Mutation_p.L64P|TNS3_ENST00000458317.2_Missense_Mutation_p.L64P|TNS3_ENST00000311160.9_Missense_Mutation_p.L64P|TNS3_ENST00000442536.2_Missense_Mutation_p.L64P			Q68CZ2	TENS3_HUMAN	tensin 3	64	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTTGGGTTAAGCTTCGTAAG	0.279																																						uc003tnv.2		NA																	0				ovary(4)	4						c.(190-192)CTT>CCT		tensin 3							68.0	69.0	69.0					7																	47476871		1803	4064	5867	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47476871A>G	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.191T>C	7.37:g.47476871A>G	ENSP00000381854:p.Leu64Pro					TNS3_uc003tnw.2_Missense_Mutation_p.L64P|TNS3_uc010kyo.1_Missense_Mutation_p.L64P	p.L64P	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			7	558	-			64			Phosphatase tensin-type.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.191T>C	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622019	0.66787	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317;ENST00000415929;ENST00000413551	D;D;D;D;D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08;-5.08;-5.08;-5.08;-5.08	5.1	5.1	0.69264	Phosphatase tensin type (1);	0.064547	0.64402	D	0.000004	D	0.99115	0.9695	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.71184	0.913;0.972	D	0.99470	1.0945	10	0.72032	D	0.01	-25.4204	12.8274	0.57726	1.0:0.0:0.0:0.0	.	64;64	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	P	64;174;64;64;167;153;64;64;64;64	ENSP00000312143:L64P;ENSP00000381854:L64P;ENSP00000347968:L64P;ENSP00000414358:L167P;ENSP00000396914:L153P;ENSP00000389285:L64P;ENSP00000388318:L64P;ENSP00000409415:L64P;ENSP00000388142:L64P	ENSP00000312143:L64P	L	-	2	0	TNS3	47443396	1.000000	0.71417	0.986000	0.45419	0.973000	0.67179	7.126000	0.77201	1.900000	0.55004	0.528000	0.53228	CTT		0.279	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		21	32	0	0	0	0	21	32				
SUN3	256979	broad.mit.edu	37	7	48045610	48045610	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:48045610C>G	ENST00000297325.4	-	6	692	c.533G>C	c.(532-534)aGa>aCa	p.R178T	SUN3_ENST00000453192.2_Missense_Mutation_p.R166T|SUN3_ENST00000412142.1_Missense_Mutation_p.R78T|SUN3_ENST00000395572.2_Missense_Mutation_p.R178T	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	178						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGGTCTTCTCTCAACTTTTT	0.358																																						uc003tof.2		NA																	0				central_nervous_system(1)	1						c.(532-534)AGA>ACA		Sad1 and UNC84 domain containing 1							84.0	81.0	82.0					7																	48045610		2203	4300	6503	SO:0001583	missense	256979					integral to membrane		g.chr7:48045610C>G	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.533G>C	7.37:g.48045610C>G	ENSP00000297325:p.Arg178Thr					SUN3_uc010kyq.2_Missense_Mutation_p.R78T|SUN3_uc003tog.2_Missense_Mutation_p.R178T|SUN3_uc011kcf.1_Missense_Mutation_p.R166T	p.R178T	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			7	630	-			178					A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.533G>C	CCDS34636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.37|18.37	3.609397|3.609397	0.66558|0.66558	.|.	.|.	ENSG00000164744|ENSG00000164744	ENST00000453071|ENST00000297325;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771	.|T;T;T;T;T	.|0.23147	.|1.92;1.96;1.92;2.54;1.96	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.290934	.|0.37304	.|N	.|0.002145	T|T	0.45558|0.45558	0.1348|0.1348	L|L	0.60455|0.60455	1.87|1.87	0.40177|0.40177	D|D	0.977246|0.977246	.|P;D;D	.|0.76494	.|0.863;0.996;0.999	.|B;P;D	.|0.66084	.|0.407;0.889;0.941	T|T	0.24476|0.24476	-1.0159|-1.0159	5|10	.|0.45353	.|T	.|0.12	.|.	15.2926|15.2926	0.73879|0.73879	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|166;78;178	.|E7EWC8;Q8TAQ9-2;Q8TAQ9	.|.;.;SUN3_HUMAN	Q|T	102|178;78;178;166;78	.|ENSP00000297325:R178T;ENSP00000410204:R78T;ENSP00000378939:R178T;ENSP00000387525:R166T;ENSP00000409077:R78T	.|ENSP00000297325:R178T	E|R	-|-	1|2	0|0	SUN3|SUN3	48012135|48012135	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.744000|0.744000	0.42396|0.42396	2.267000|2.267000	0.43329|0.43329	2.764000|2.764000	0.94973|0.94973	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.358	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		7	33	0	0	0	0	7	33				
HGF	3082	broad.mit.edu	37	7	81355326	81355326	+	Nonsense_Mutation	SNP	G	G	A	rs373442319		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:81355326G>A	ENST00000222390.5	-	9	1274	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	HGF_ENST00000457544.2_Nonsense_Mutation_p.R345*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	350	Kringle 3. {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)			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						TAATTTTCTCGTAGGTCCCTA	0.418																																						uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1048-1050)CGA>TGA		hepatocyte growth factor isoform 1							104.0	104.0	104.0					7																	81355326		2203	4300	6503	SO:0001587	stop_gained	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.chr7:81355326G>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.1048C>T	7.37:g.81355326G>A	ENSP00000222390:p.Arg350*					HGF_uc003uhm.2_Nonsense_Mutation_p.R345*	p.R350*	NM_000601	NP_000592	P14210	HGF_HUMAN			9	1213	-			350			Kringle 3.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	SNP	ENST00000222390.5	37	c.1048C>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	37	6.043689	0.97231	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	.	.	.	5.51	1.21	0.21127	.	0.088281	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1563	0.81670	0.0:0.0:0.1371:0.8629	.	.	.	.	X	350;345	.	ENSP00000222390:R350X	R	-	1	2	HGF	81193262	1.000000	0.71417	0.919000	0.36401	0.854000	0.48673	0.807000	0.27140	-0.068000	0.12953	-0.293000	0.09583	CGA		0.418	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		19	47	0	0	0	0	19	47				
VGF	7425	broad.mit.edu	37	7	100806475	100806475	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:100806475G>A	ENST00000249330.2	-	2	1889	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	VGF_ENST00000445482.2_Silent_p.I550I	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	550					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCGCGGCCGGATGTAGTTGG	0.721																																						uc003uxx.3		NA																	0					0						c.(1648-1650)ATC>ATT		VGF nerve growth factor inducible precursor							28.0	32.0	31.0					7																	100806475		2198	4297	6495	SO:0001819	synonymous_variant	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100806475G>A	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.1650C>T	7.37:g.100806475G>A							p.I550I	NM_003378	NP_003369	O15240	VGF_HUMAN			2	1868	-	Lung NSC(181;0.168)|all_lung(186;0.215)		550					Q9UDW8	Silent	SNP	ENST00000249330.2	37	c.1650C>T	CCDS5712.1																																																																																				0.721	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378		7	53	0	0	0	0	7	53				
SLC26A5	375611	broad.mit.edu	37	7	103053458	103053458	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:103053458T>G	ENST00000306312.3	-	5	655	c.394A>C	c.(394-396)Ata>Cta	p.I132L	SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393730.1_Missense_Mutation_p.I132L|SLC26A5_ENST00000356767.4_Missense_Mutation_p.I132L|SLC26A5_ENST00000393729.1_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.I132L|SLC26A5_ENST00000339444.6_Missense_Mutation_p.I132L|SLC26A5_ENST00000393735.2_Missense_Mutation_p.I132L|SLC26A5_ENST00000393727.1_Missense_Mutation_p.I132L|SLC26A5_ENST00000393723.1_Missense_Mutation_p.I132L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	132					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCTATGGATATGTGTCTGGAG	0.373																																						uc003vbz.2		NA																	0				ovary(1)	1						c.(394-396)ATA>CTA		prestin isoform a							77.0	78.0	77.0					7																	103053458		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103053458T>G	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.394A>C	7.37:g.103053458T>G	ENSP00000304783:p.Ile132Leu					SLC26A5_uc003vbt.1_Missense_Mutation_p.I132L|SLC26A5_uc003vbu.1_Missense_Mutation_p.I132L|SLC26A5_uc003vbv.1_Missense_Mutation_p.I132L|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.I132L|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.I132L	NM_198999	NP_945350	P58743	S26A5_HUMAN			5	630	-			132			Helical; Name=3; (Potential).		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.394A>C	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.017639	0.54576	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.61	1.53	0.23141	.	0.134152	0.64402	D	0.000006	D	0.84447	0.5474	L	0.38733	1.17	0.80722	D	1	B;P;B;B;P	0.41232	0.107;0.743;0.367;0.143;0.698	B;B;B;B;B	0.44133	0.079;0.442;0.187;0.101;0.215	T	0.82131	-0.0609	10	0.62326	D	0.03	.	10.462	0.44585	0.0:0.2176:0.0:0.7824	.	132;132;132;132;132	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	L	132	ENSP00000342396:I132L;ENSP00000349210:I132L;ENSP00000377336:I132L;ENSP00000304783:I132L;ENSP00000377331:I132L;ENSP00000389733:I132L;ENSP00000377328:I132L;ENSP00000377324:I132L	ENSP00000304783:I132L	I	-	1	0	SLC26A5	102840694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.486000	0.35530	0.411000	0.25702	0.528000	0.53228	ATA		0.373	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		12	42	0	0	0	0	12	42				
PNPLA8	50640	broad.mit.edu	37	7	108154982	108154982	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:108154982C>G	ENST00000422087.1	-	4	1360	c.954G>C	c.(952-954)aaG>aaC	p.K318N	PNPLA8_ENST00000388728.5_Missense_Mutation_p.K318N|PNPLA8_ENST00000453144.1_Missense_Mutation_p.K218N|PNPLA8_ENST00000257694.8_Missense_Mutation_p.K318N|PNPLA8_ENST00000436062.1_Missense_Mutation_p.K318N|PNPLA8_ENST00000426128.2_Missense_Mutation_p.K318N|PNPLA8_ENST00000483879.1_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	318					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTGACTGACTCTTTGAATCAT	0.413																																						uc003vff.1		NA																	0				breast(2)	2						c.(952-954)AAG>AAC		patatin-like phospholipase domain containing 8							112.0	112.0	112.0					7																	108154982		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108154982C>G	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.954G>C	7.37:g.108154982C>G	ENSP00000410804:p.Lys318Asn					PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.K318N|PNPLA8_uc003vfi.1_Missense_Mutation_p.K218N|PNPLA8_uc003vfj.1_Missense_Mutation_p.K318N|PNPLA8_uc003vfk.1_Missense_Mutation_p.K218N	p.K318N	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN			4	1361	-			318					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.954G>C	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439140	0.43326	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	4.5	3.53	0.40419	.	0.531595	0.20754	N	0.086292	T	0.24928	0.0605	M	0.66939	2.045	0.51767	D	0.999935	P	0.49253	0.921	P	0.47044	0.535	T	0.03524	-1.1028	10	0.72032	D	0.01	.	10.7211	0.46040	0.0:0.8671:0.0:0.1329	.	318	Q9NP80	PLPL8_HUMAN	N	318;318;318;318;218;318;218	ENSP00000394988:K318N;ENSP00000257694:K318N;ENSP00000373380:K318N;ENSP00000410804:K318N;ENSP00000387789:K218N;ENSP00000406779:K318N;ENSP00000402274:K218N	ENSP00000257694:K318N	K	-	3	2	PNPLA8	107942218	0.943000	0.32029	0.901000	0.35422	0.672000	0.39443	2.811000	0.47986	1.158000	0.42547	0.591000	0.81541	AAG		0.413	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		30	156	0	0	0	0	30	156				
C7orf60	154743	broad.mit.edu	37	7	112461999	112461999	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:112461999T>C	ENST00000297145.4	-	5	1183	c.1018A>G	c.(1018-1020)Att>Gtt	p.I340V	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	340							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TCTTGAGGAATATATAACATT	0.353																																						uc003vgo.1		NA																	0				ovary(2)|skin(1)	3						c.(1018-1020)ATT>GTT		hypothetical protein LOC154743							50.0	47.0	48.0					7																	112461999		1820	4083	5903	SO:0001583	missense	154743							g.chr7:112461999T>C		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.1018A>G	7.37:g.112461999T>C	ENSP00000297145:p.Ile340Val					C7orf60_uc011kms.1_Missense_Mutation_p.I366V	p.I340V	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			5	1145	-			340					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.1018A>G	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297206	0.60086	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.83	5.83	0.93111	.	0.046652	0.85682	D	0.000000	T	0.63319	0.2501	L	0.27053	0.805	0.80722	D	1	P;D	0.57257	0.913;0.979	P;P	0.61592	0.891;0.85	T	0.66752	-0.5844	9	0.62326	D	0.03	-10.2781	16.1967	0.82036	0.0:0.0:0.0:1.0	.	287;340	B4DST1;Q1RMZ1	.;CG060_HUMAN	V	340;322;287	.	ENSP00000297145:I340V	I	-	1	0	C7orf60	112249235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.217000	0.71921	0.477000	0.44152	ATT		0.353	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		4	37	0	0	0	0	4	37				
ING3	54556	broad.mit.edu	37	7	120613295	120613295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:120613295G>C	ENST00000315870.5	+	11	1286	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	ING3_ENST00000431467.1_Missense_Mutation_p.D365H	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	380				Missing (in Ref. 5; CAC48260). {ECO:0000305}.	chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TGATAACCAAGATGTAAGTAT	0.284																																						uc003vjn.2		NA																	0				ovary(1)	1						c.(1138-1140)GAT>CAT		inhibitor of growth family, member 3 isoform 1							113.0	117.0	116.0					7																	120613295		2203	4296	6499	SO:0001583	missense	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120613295G>C	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.1138G>C	7.37:g.120613295G>C	ENSP00000320566:p.Asp380His					ING3_uc003vjo.2_Missense_Mutation_p.D154H|ING3_uc003vjp.2_3'UTR|ING3_uc011kns.1_Missense_Mutation_p.D365H	p.D380H	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN			11	1272	+	all_neural(327;0.117)		380	Missing (in Ref. 5; CAC48260).		PHD-type.		A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	c.1138G>C	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716719	0.89205	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	T;T	0.42513	0.97;0.97	5.62	5.62	0.85841	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.70554	-0.4840	10	0.72032	D	0.01	-25.6509	19.7198	0.96137	0.0:0.0:1.0:0.0	.	380	Q9NXR8	ING3_HUMAN	H	380;365	ENSP00000320566:D380H;ENSP00000388506:D365H	ENSP00000320566:D380H	D	+	1	0	ING3	120400531	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.808000	0.99193	2.662000	0.90505	0.579000	0.79373	GAT		0.284	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		15	62	0	0	0	0	15	62				
ASB10	136371	broad.mit.edu	37	7	150878413	150878413	+	Silent	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:150878413T>C	ENST00000420175.2	-	3	741	c.717A>G	c.(715-717)gcA>gcG	p.A239A	ASB10_ENST00000275838.1_Silent_p.A239A|ASB10_ENST00000434669.1_Silent_p.A284A|ASB10_ENST00000422024.1_Silent_p.A284A|ASB10_ENST00000377867.3_Silent_p.A224A			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	239					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCAGGACATGCCCCCCGTC	0.652																																						uc003wjm.1		NA																	0					0						c.(850-852)GCA>GCG		ankyrin repeat and SOCS box-containing 10							34.0	34.0	34.0					7																	150878413		2203	4300	6503	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150878413T>C	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.717A>G	7.37:g.150878413T>C						ASB10_uc003wjl.1_Silent_p.A284A|ASB10_uc003wjn.1_Silent_p.A224A	p.A284A	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	978	-			239			ANK 4.		A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.852A>G	CCDS47750.2																																																																																				0.652	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		5	15	0	0	0	0	5	15				
FGF20	26281	broad.mit.edu	37	8	16850824	16850824	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:16850824C>G	ENST00000180166.5	-	3	541	c.393G>C	c.(391-393)gaG>gaC	p.E131D		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	131					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)		p.E131E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AAGTAAGTTTCTCCTGAAAGA	0.333																																						uc003wxc.1		NA																	1	Substitution - coding silent(1)		prostate(1)	lung(1)	1						c.(391-393)GAG>GAC		fibroblast growth factor 20							100.0	105.0	103.0					8																	16850824		2203	4300	6503	SO:0001583	missense	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16850824C>G	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.393G>C	8.37:g.16850824C>G	ENSP00000180166:p.Glu131Asp					FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Missense_Mutation_p.E97Q	p.E131D	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	526	-			131					B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	37	c.393G>C	CCDS5998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.95|12.95	2.092439|2.092439	0.36952|0.36952	.|.	.|.	ENSG00000078579|ENSG00000078579	ENST00000180166|ENST00000519941	D|D	0.82255|0.82167	-1.59|-1.58	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.047806|0.047806	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.82604|0.82604	0.5073|0.5073	L|L	0.41573|0.41573	1.285|1.285	0.53005|0.53005	D|D	0.999969|0.999969	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.79359|0.79359	-0.1836|-0.1836	10|8	0.32370|0.32370	T|T	0.25|0.25	.|.	13.7154|13.7154	0.62693|0.62693	0.0:0.9298:0.0:0.0702|0.0:0.9298:0.0:0.0702	.|.	131|.	Q9NP95|.	FGF20_HUMAN|.	D|Q	131|33	ENSP00000180166:E131D|ENSP00000428072:E33Q	ENSP00000180166:E131D|ENSP00000428072:E33Q	E|E	-|-	3|1	2|0	FGF20|FGF20	16895195|16895195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	1.422000|1.422000	0.34826|0.34826	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.333	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1			45	132	0	0	0	0	45	132				
LPL	4023	broad.mit.edu	37	8	19810909	19810909	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:19810909A>T	ENST00000311322.8	+	4	988	c.518A>T	c.(517-519)aAt>aTt	p.N173I		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	173					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	AGTCTGACCAATAAGAAAGTC	0.413																																						uc003wzk.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(517-519)AAT>ATT		lipoprotein lipase precursor	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						110.0	103.0	106.0					8																	19810909		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19810909A>T		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.518A>T	8.37:g.19810909A>T	ENSP00000309757:p.Asn173Ile						p.N173I	NM_000237	NP_000228	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	4	888	+			173					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.518A>T	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311927	0.40895	.	.	ENSG00000175445	ENST00000520959;ENST00000311322;ENST00000538071;ENST00000535763	D;D	0.91124	-2.79;-2.79	5.98	4.82	0.62117	Lipase, N-terminal (1);	0.377781	0.35179	N	0.003391	D	0.92941	0.7754	M	0.86651	2.83	0.31956	N	0.6090720000000001	B	0.30146	0.27	B	0.41813	0.367	D	0.93050	0.6465	8	.	.	.	-16.2237	11.6464	0.51263	0.851:0.149:0.0:0.0	.	173	P06858	LIPL_HUMAN	I	97;173;97;159	ENSP00000428496:N97I;ENSP00000309757:N173I	.	N	+	2	0	LPL	19855189	0.610000	0.26983	0.978000	0.43139	0.553000	0.35397	2.205000	0.42770	1.069000	0.40788	0.482000	0.46254	AAT		0.413	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			29	41	0	0	0	0	29	41				
MCM4	4173	broad.mit.edu	37	8	48887407	48887407	+	Silent	SNP	T	T	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:48887407T>A	ENST00000262105.2	+	14	2459	c.2250T>A	c.(2248-2250)tcT>tcA	p.S750S	MCM4_ENST00000523944.1_Silent_p.S750S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	750					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TAAGATTGTCTAACAAAGTTG	0.498																																						uc003xqk.1		NA																	0				ovary(2)|skin(2)	4						c.(2248-2250)TCT>TCA		minichromosome maintenance complex component 4							150.0	155.0	153.0					8																	48887407		2203	4300	6503	SO:0001819	synonymous_variant	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48887407T>A		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2250T>A	8.37:g.48887407T>A						MCM4_uc003xql.1_Silent_p.S750S|MCM4_uc011ldi.1_Silent_p.S737S	p.S750S	NM_182746	NP_877423	P33991	MCM4_HUMAN			15	2345	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	750					Q8NEH1|Q99658	Silent	SNP	ENST00000262105.2	37	c.2250T>A	CCDS6143.1																																																																																				0.498	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		12	159	0	0	0	0	12	159				
SNTG1	54212	broad.mit.edu	37	8	51705261	51705261	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:51705261C>G	ENST00000522124.1	+	19	2087	c.1426C>G	c.(1426-1428)Ctt>Gtt	p.L476V	SNTG1_ENST00000276467.5_Missense_Mutation_p.L439V|SNTG1_ENST00000518864.1_Missense_Mutation_p.L476V|SNTG1_ENST00000517473.1_Missense_Mutation_p.L439V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	476					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATTTGCTGTTCTTCACTGCAT	0.363																																						uc010lxy.1		NA																	0				ovary(5)	5						c.(1426-1428)CTT>GTT		syntrophin, gamma 1							201.0	198.0	199.0					8																	51705261		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51705261C>G	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1426C>G	8.37:g.51705261C>G	ENSP00000429842:p.Leu476Val					SNTG1_uc003xqs.1_Missense_Mutation_p.L476V|SNTG1_uc010lxz.1_Missense_Mutation_p.L439V|SNTG1_uc011ldl.1_RNA	p.L476V	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			20	1797	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	476					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1426C>G	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429831	0.83776	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.78003	2.07;2.07;-1.14;-1.14	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84929	0.5581	L	0.47716	1.5	0.80722	D	1	D;P	0.89917	1.0;0.956	D;D	0.91635	0.999;0.931	T	0.83353	-0.0002	10	0.38643	T	0.18	-22.7555	18.498	0.90872	0.0:1.0:0.0:0.0	.	439;476	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	V	476;476;439;439	ENSP00000429276:L476V;ENSP00000429842:L476V;ENSP00000431123:L439V;ENSP00000276467:L439V	ENSP00000276467:L439V	L	+	1	0	SNTG1	51867814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.951000	0.75983	2.615000	0.88500	0.637000	0.83480	CTT		0.363	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			18	101	0	0	0	0	18	101				
TGS1	96764	broad.mit.edu	37	8	56698298	56698298	+	Missense_Mutation	SNP	G	G	C	rs139226926	byFrequency	TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:56698298G>C	ENST00000260129.5	+	3	664	c.187G>C	c.(187-189)Gag>Cag	p.E63Q		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	63					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GACAGAAGAAGAGGAAGGTGG	0.408													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16017	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(187-189)GAG>CAG		trimethylguanosine synthase homolog		G	GLN/GLU	6,4400	11.4+/-27.6	0,6,2197	114.0	104.0	107.0		187	4.8	1.0	8	dbSNP_134	107	0,8600		0,0,4300	yes	missense	TGS1	NM_024831.6	29	0,6,6497	CC,CG,GG		0.0,0.1362,0.0461	benign	63/854	56698298	6,13000	2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56698298G>C	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.187G>C	8.37:g.56698298G>C	ENSP00000260129:p.Glu63Gln					TGS1_uc010lyh.2_5'UTR	p.E63Q	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		3	574	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	63					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.187G>C	CCDS34894.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.806	0.149915	0.09185	0.001362	0.0	ENSG00000137574	ENST00000260129	T	0.18338	2.22	5.8	4.75	0.60458	.	0.542320	0.19296	N	0.117758	T	0.14960	0.0361	L	0.55481	1.735	0.09310	N	0.999999	P	0.39480	0.675	B	0.31442	0.13	T	0.19745	-1.0296	10	0.45353	T	0.12	-17.7765	10.8135	0.46562	0.0828:0.1749:0.7422:0.0	.	63	Q96RS0	TGS1_HUMAN	Q	63	ENSP00000260129:E63Q	ENSP00000260129:E63Q	E	+	1	0	TGS1	56860852	0.976000	0.34144	0.996000	0.52242	0.050000	0.14768	1.844000	0.39269	2.735000	0.93741	0.655000	0.94253	GAG		0.408	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		10	37	0	0	0	0	10	37				
FAM110B	90362	broad.mit.edu	37	8	59059795	59059795	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:59059795G>A	ENST00000361488.3	+	5	1886	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	336						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CAGTGCCAATGACCGCGTGCC	0.458																																						uc003xtj.1		NA																	0				large_intestine(1)	1						c.(1006-1008)GAC>AAC		hypothetical protein LOC90362							80.0	73.0	75.0					8																	59059795		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059795G>A	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.1006G>A	8.37:g.59059795G>A	ENSP00000355204:p.Asp336Asn						p.D336N	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	1886	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	336					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.1006G>A	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053128	0.75960	.	.	ENSG00000169122	ENST00000361488	T	0.46819	0.86	5.65	5.65	0.86999	.	0.049202	0.85682	D	0.000000	T	0.37972	0.1023	N	0.19112	0.55	0.80722	D	1	P	0.42078	0.77	B	0.40506	0.331	T	0.10382	-1.0632	9	.	.	.	-17.3362	19.7117	0.96099	0.0:0.0:1.0:0.0	.	336	Q8TC76	F110B_HUMAN	N	336	ENSP00000355204:D336N	.	D	+	1	0	FAM110B	59222349	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.830000	0.99415	2.637000	0.89404	0.561000	0.74099	GAC		0.458	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		12	13	0	0	0	0	12	13				
PAG1	55824	broad.mit.edu	37	8	81899630	81899630	+	Silent	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:81899630C>T	ENST00000220597.4	-	6	959	c.249G>A	c.(247-249)caG>caA	p.Q83Q		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	83					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GTGCCCCATTCTGCTCACTGC	0.458																																						uc003ybz.2		NA																	0					0						c.(247-249)CAG>CAA		phosphoprotein associated with glycosphingolipid							156.0	138.0	144.0					8																	81899630		2203	4300	6503	SO:0001819	synonymous_variant	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81899630C>T	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.249G>A	8.37:g.81899630C>T							p.Q83Q	NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		6	960	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		83			Cytoplasmic (Potential).		A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	c.249G>A	CCDS6227.1																																																																																				0.458	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		12	62	0	0	0	0	12	62				
ENY2	56943	broad.mit.edu	37	8	110348368	110348368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:110348368G>A	ENST00000521688.1	+	2	163	c.18G>A	c.(16-18)atG>atA	p.M6I	NUDCD1_ENST00000239690.4_5'Flank|ENY2_ENST00000522407.1_Intron|ENY2_ENST00000521662.1_Start_Codon_SNP_p.M1I|ENY2_ENST00000520147.1_Start_Codon_SNP_p.M1I	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1			enhancer of yellow 2 homolog (Drosophila)											endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TTAGCAAGATGAACAAAGATG	0.358																																						uc003ynd.2		NA																	0					0						c.(16-18)ATG>ATA		enhancer of yellow 2 homolog							104.0	102.0	102.0					8																	110348368		1919	4125	6044	SO:0001583	missense	56943				histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity	g.chr8:110348368G>A		CCDS43762.1, CCDS55270.1	8q23.1	2005-08-16			ENSG00000120533	ENSG00000120533			24449	protein-coding gene	gene with protein product						11438676	Standard	NM_020189		Approved	DC6, FLJ20480	uc003ynd.3	Q9NPA8	OTTHUMG00000164933	ENST00000521688.1:c.18G>A	8.37:g.110348368G>A	ENSP00000429986:p.Met6Ile					NUDCD1_uc003ynb.3_5'Flank|NUDCD1_uc010mcl.2_5'Flank|ENY2_uc003ync.2_Missense_Mutation_p.M1I	p.M6I	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)		2	80	+	all_neural(195;0.219)		6						Missense_Mutation	SNP	ENST00000521688.1	37	c.18G>A	CCDS43762.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377203	0.61735	.	.	ENSG00000120533	ENST00000521662;ENST00000521688;ENST00000520147	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.65498	2.005	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.64542	-0.6383	9	0.48119	T	0.1	-1.4515	17.6414	0.88137	0.0:0.0:1.0:0.0	.	6	Q9NPA8	ENY2_HUMAN	I	1;6;1	.	ENSP00000339861:M1I	M	+	3	0	ENY2	110417544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.970000	0.88000	2.473000	0.83533	0.655000	0.94253	ATG		0.358	ENY2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381003.1	NM_020189		8	13	0	0	0	0	8	13				
SYBU	55638	broad.mit.edu	37	8	110590243	110590243	+	Silent	SNP	A	A	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr8:110590243A>G	ENST00000422135.1	-	7	1253	c.738T>C	c.(736-738)cgT>cgC	p.R246R	SYBU_ENST00000529175.1_Silent_p.R40R|SYBU_ENST00000533171.1_Silent_p.R246R|SYBU_ENST00000399066.3_Silent_p.R243R|SYBU_ENST00000529690.1_Silent_p.R116R|SYBU_ENST00000528647.1_Silent_p.R245R|SYBU_ENST00000446070.2_Silent_p.R245R|SYBU_ENST00000408889.3_Silent_p.R127R|SYBU_ENST00000533065.1_Silent_p.R127R|SYBU_ENST00000528331.1_Silent_p.R127R|SYBU_ENST00000276646.9_Silent_p.R246R|SYBU_ENST00000419099.1_Silent_p.R245R|SYBU_ENST00000433638.1_Silent_p.R246R|SYBU_ENST00000424158.2_Silent_p.R251R|SYBU_ENST00000533895.1_Silent_p.R245R|SYBU_ENST00000408908.2_Silent_p.R246R|SYBU_ENST00000532779.1_Silent_p.R178R|SYBU_ENST00000440310.1_Silent_p.R246R|SYBU_ENST00000527707.1_5'UTR	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	246	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ACCTTCCAGAACGCCTGAAAC	0.428																																						uc003ynj.3		NA																	0				ovary(1)	1						c.(736-738)CGT>CGC		Golgi-localized syntaphilin-related protein							187.0	174.0	178.0					8																	110590243		1924	4141	6065	SO:0001819	synonymous_variant	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110590243A>G	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.738T>C	8.37:g.110590243A>G						SYBU_uc003yni.3_Silent_p.R243R|SYBU_uc003ynk.3_Silent_p.R127R|SYBU_uc010mco.2_Silent_p.R245R|SYBU_uc003ynl.3_Silent_p.R245R|SYBU_uc010mcp.2_Silent_p.R246R|SYBU_uc010mcq.2_Silent_p.R246R|SYBU_uc003yno.3_Silent_p.R127R|SYBU_uc010mcr.2_Silent_p.R246R|SYBU_uc003ynm.3_Silent_p.R245R|SYBU_uc003ynn.3_Silent_p.R245R|SYBU_uc010mcs.2_Silent_p.R127R|SYBU_uc010mct.2_Silent_p.R246R|SYBU_uc010mcu.2_Silent_p.R245R|SYBU_uc003ynp.3_Silent_p.R178R|SYBU_uc010mcv.2_Silent_p.R246R|SYBU_uc003ynh.3_Silent_p.R40R|SYBU_uc011lhw.1_Silent_p.R116R	p.R246R	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			6	901	-			246			Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	c.738T>C	CCDS47912.1																																																																																				0.428	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		30	113	0	0	0	0	30	113				
PTPRD	5789	broad.mit.edu	37	9	8471058	8471058	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:8471058C>G	ENST00000381196.4	-	28	3984	c.3441G>C	c.(3439-3441)ttG>ttC	p.L1147F	PTPRD_ENST00000397611.3_Missense_Mutation_p.L733F|PTPRD_ENST00000537002.1_Missense_Mutation_p.L733F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1147F|PTPRD_ENST00000486161.1_Missense_Mutation_p.L736F|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1134F|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1125F|PTPRD_ENST00000397617.3_Missense_Mutation_p.L726F|PTPRD_ENST00000355233.5_Missense_Mutation_p.L736F|PTPRD_ENST00000397606.3_Missense_Mutation_p.L726F|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1147F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1147					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGATTTCTTCAAAGGCACAA	0.378										TSP Lung(15;0.13)																												uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3439-3441)TTG>TTC		protein tyrosine phosphatase, receptor type, D							131.0	128.0	129.0					9																	8471058		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8471058C>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3441G>C	9.37:g.8471058C>G	ENSP00000370593:p.Leu1147Phe	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.L736F|PTPRD_uc003zkq.2_Missense_Mutation_p.L736F|PTPRD_uc003zkr.2_Missense_Mutation_p.L731F|PTPRD_uc003zks.2_Missense_Mutation_p.L726F|PTPRD_uc003zkl.2_Missense_Mutation_p.L1138F|PTPRD_uc003zkm.2_Missense_Mutation_p.L1134F|PTPRD_uc003zkn.2_Missense_Mutation_p.L736F|PTPRD_uc003zko.2_Missense_Mutation_p.L733F	p.L1147F	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	30	4152	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1147			Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3441G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297028	0.81025	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.55760	0.55;0.55;0.59;0.64;0.72;0.84;0.6;0.5;0.55;0.72;0.84	5.72	5.72	0.89469	.	0.151725	0.45361	D	0.000371	T	0.72495	0.3467	M	0.71036	2.16	0.58432	D	0.999996	P;P;D;B;P;B;B;P;B	0.65815	0.615;0.718;0.995;0.068;0.81;0.164;0.155;0.93;0.318	B;B;D;B;P;B;B;P;B	0.70487	0.284;0.168;0.969;0.014;0.875;0.099;0.306;0.634;0.212	T	0.70680	-0.4805	9	.	.	.	.	19.4857	0.95027	0.0:1.0:0.0:0.0	.	726;731;736;736;733;733;1134;1147;1147	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	F	1147;1147;1134;1125;736;726;733;733;618;1147;736;726	ENSP00000370593:L1147F;ENSP00000348812:L1147F;ENSP00000353187:L1134F;ENSP00000351293:L1125F;ENSP00000347373:L736F;ENSP00000380741:L726F;ENSP00000380735:L733F;ENSP00000440515:L733F;ENSP00000438164:L1147F;ENSP00000417093:L736F;ENSP00000380731:L726F	.	L	-	3	2	PTPRD	8461058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.541000	0.53618	2.711000	0.92665	0.655000	0.94253	TTG		0.378	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			40	18	0	0	0	0	40	18				
ADAMTSL1	92949	broad.mit.edu	37	9	18753314	18753314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:18753314G>A	ENST00000380548.4	+	16	2364	c.2025G>A	c.(2023-2025)tgG>tgA	p.W675*		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	675	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGGCAAGTGGAGTCCATGTA	0.488																																						uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(2023-2025)TGG>TGA		ADAMTS-like 1 isoform 4 precursor							78.0	72.0	74.0					9																	18753314		1938	4150	6088	SO:0001587	stop_gained	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18753314G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2025G>A	9.37:g.18753314G>A	ENSP00000369921:p.Trp675*						p.W675*	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	16	2152	+			675			TSP type-1 6.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	ENST00000380548.4	37	c.2025G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	44	11.210640	0.99531	.	.	ENSG00000178031	ENST00000380548	.	.	.	5.85	5.85	0.93711	.	1.189850	0.07498	U	0.906750	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	.	.	.	X	675	.	ENSP00000369921:W675X	W	+	3	0	ADAMTSL1	18743314	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.735000	0.91549	2.767000	0.95098	0.655000	0.94253	TGG		0.488	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			10	2	0	0	0	0	10	2				
FAM154A	158297	broad.mit.edu	37	9	18928327	18928327	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:18928327G>T	ENST00000380534.4	-	4	1427	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.P191H	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	383										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GGTATTGATAGGCAGGTGGGG	0.582																																						uc003zni.1		NA																	0				pancreas(1)	1						c.(1147-1149)CCT>CAT		hypothetical protein LOC158297							73.0	69.0	70.0					9																	18928327		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928327G>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.1148C>A	9.37:g.18928327G>T	ENSP00000369907:p.Pro383His					FAM154A_uc010mip.1_Missense_Mutation_p.P191H	p.P383H	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1426	-			383					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.1148C>A	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557504	0.27827	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.23552	2.72;1.9	5.09	3.26	0.37387	.	0.225765	0.31909	N	0.006878	T	0.35248	0.0925	M	0.70595	2.14	0.26936	N	0.966357	D	0.65815	0.995	P	0.56398	0.797	T	0.16897	-1.0387	10	0.15499	T	0.54	-4.4803	6.6801	0.23115	0.2824:0.0:0.7176:0.0	.	383	Q8IYX7	F154A_HUMAN	H	383;191	ENSP00000369907:P383H;ENSP00000438823:P191H	ENSP00000369907:P383H	P	-	2	0	FAM154A	18918327	0.193000	0.23313	0.080000	0.20451	0.279000	0.26890	0.709000	0.25734	0.727000	0.32360	0.650000	0.86243	CCT		0.582	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		8	33	1	0	0.000157383	0.000164916	8	33				
C9orf131	138724	broad.mit.edu	37	9	35044434	35044434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:35044434C>T	ENST00000312292.5	+	2	1855	c.1808C>T	c.(1807-1809)cCa>cTa	p.P603L	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.P530L|C9orf131_ENST00000421362.2_Missense_Mutation_p.P555L	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	603										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCTAAGCACCCAGCTTGTAAC	0.493																																						uc003zvw.2		NA																	0					0						c.(1807-1809)CCA>CTA		hypothetical protein LOC138724 isoform A							113.0	112.0	113.0					9																	35044434		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35044434C>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1808C>T	9.37:g.35044434C>T	ENSP00000308279:p.Pro603Leu					C9orf131_uc003zvu.2_Missense_Mutation_p.P555L|C9orf131_uc003zvv.2_Missense_Mutation_p.P530L|C9orf131_uc003zvx.2_Missense_Mutation_p.P568L	p.P603L	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1837	+	all_epithelial(49;0.22)		603					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.1808C>T	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665475	0.67700	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.18502	2.22;2.21;2.23	4.46	-1.22	0.09494	.	0.653864	0.13567	N	0.378333	T	0.16896	0.0406	L	0.61218	1.895	0.09310	N	1	B;B;B;B	0.15930	0.015;0.015;0.015;0.015	B;B;B;B	0.16722	0.016;0.016;0.016;0.016	T	0.24977	-1.0145	10	0.66056	D	0.02	1.3418	8.18	0.31305	0.0:0.5213:0.0:0.4787	.	78;603;530;555	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	L	555;530;603;78	ENSP00000393683:P555L;ENSP00000346472:P530L;ENSP00000308279:P603L	ENSP00000308279:P603L	P	+	2	0	C9orf131	35034434	0.000000	0.05858	0.000000	0.03702	0.732000	0.41865	-0.268000	0.08607	-0.287000	0.09064	0.655000	0.94253	CCA		0.493	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		31	101	0	0	0	0	31	101				
C9orf131	138724	broad.mit.edu	37	9	35044709	35044709	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:35044709C>G	ENST00000312292.5	+	2	2130	c.2083C>G	c.(2083-2085)Cta>Gta	p.L695V	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.L622V|C9orf131_ENST00000421362.2_Missense_Mutation_p.L647V	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	695										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCTACTCCTCTACCAGAGCC	0.562																																						uc003zvw.2		NA																	0					0						c.(2083-2085)CTA>GTA		hypothetical protein LOC138724 isoform A							55.0	52.0	53.0					9																	35044709		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35044709C>G	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2083C>G	9.37:g.35044709C>G	ENSP00000308279:p.Leu695Val					C9orf131_uc003zvu.2_Missense_Mutation_p.L647V|C9orf131_uc003zvv.2_Missense_Mutation_p.L622V|C9orf131_uc003zvx.2_Missense_Mutation_p.L660V	p.L695V	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2112	+	all_epithelial(49;0.22)		695					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2083C>G	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541871	0.45280	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.17213	2.3;2.29;2.3	4.04	2.17	0.27698	.	0.534679	0.14319	N	0.327170	T	0.19927	0.0479	M	0.62723	1.935	0.09310	N	1	P;P;P;P	0.48162	0.906;0.906;0.906;0.906	P;P;P;P	0.51701	0.677;0.677;0.677;0.677	T	0.08452	-1.0721	10	0.02654	T	1	-6.0E-4	5.5072	0.16860	0.0:0.7477:0.0:0.2523	.	170;695;622;647	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	V	647;622;695;170	ENSP00000393683:L647V;ENSP00000346472:L622V;ENSP00000308279:L695V	ENSP00000308279:L695V	L	+	1	2	C9orf131	35034709	0.002000	0.14202	0.002000	0.10522	0.445000	0.32107	0.269000	0.18589	0.647000	0.30713	0.655000	0.94253	CTA		0.562	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		13	30	0	0	0	0	13	30				
CENPP	401541	broad.mit.edu	37	9	95256393	95256393	+	Intron	SNP	C	C	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:95256393C>T	ENST00000375587.3	+	5	1079				ECM2_ENST00000444490.2_Missense_Mutation_p.R635K	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P						CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CACATCTGATCTGTTTGTCAC	0.413																																						uc004asf.3		NA																	0				ovary(1)|skin(1)	2						c.(1903-1905)AGA>AAA		extracellular matrix protein 2 precursor							119.0	106.0	110.0					9																	95256393		876	1991	2867	SO:0001627	intron_variant	1842				cell-matrix adhesion		integrin binding	g.chr9:95256393C>T	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.564+114252C>T	9.37:g.95256393C>T						CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	p.R635K	NM_001393	NP_001384	O94769	ECM2_HUMAN			10	2054	-			Error:Variant_position_missing_in_O94769_after_alignment					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.1904G>A	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	C	8.658	0.899963	0.17686	.	.	ENSG00000106823	ENST00000444490	T	0.47177	0.85	2.9	-2.6	0.06190	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.09310	N	1	B	0.20550	0.046	B	0.22601	0.04	T	0.20638	-1.0269	8	0.38643	T	0.18	.	4.0393	0.09743	0.0:0.2478:0.1959:0.5562	.	635	O94769-2	.	K	635	ENSP00000393971:R635K	ENSP00000393971:R635K	R	-	2	0	ECM2	94296214	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.684000	0.05173	-0.588000	0.05882	-0.355000	0.07637	AGA		0.413	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		11	60	0	0	0	0	11	60				
PAEP	5047	broad.mit.edu	37	9	138454276	138454276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:138454276G>A	ENST00000479141.1	+	2	277	c.233G>A	c.(232-234)aGa>aAa	p.R78K	PAEP_ENST00000277508.5_Missense_Mutation_p.R78K|PAEP_ENST00000371766.2_Missense_Mutation_p.R78K	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	78					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GTTCTGCACAGATGGTGGGTT	0.622																																						uc004cge.1		NA																	0					0						c.(232-234)AGA>AAA		glycodelin precursor							105.0	89.0	95.0					9																	138454276		2203	4300	6503	SO:0001583	missense	5047				multicellular organismal development	extracellular region	binding|transporter activity	g.chr9:138454276G>A		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"""Lipocalins"""	8573	protein-coding gene	gene with protein product	"""glycodelin-A"", ""glycodelin-S"", ""glycodelin-F"", ""progesterone-associated endometrial protein"", ""glycodelin"", ""PP14 protein (placental protein 14)"", ""pregnancy-associated endometrial alpha-2-globulin"", ""alpha uterine protein"""	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.233G>A	9.37:g.138454276G>A	ENSP00000417898:p.Arg78Lys					PAEP_uc010naw.1_Missense_Mutation_p.R56K|PAEP_uc010naz.2_RNA|PAEP_uc010nay.2_Missense_Mutation_p.R78K|PAEP_uc010nba.1_Missense_Mutation_p.R78K|PAEP_uc004cgd.1_Missense_Mutation_p.R78K|PAEP_uc011mdp.1_Missense_Mutation_p.R56K|PAEP_uc004cgg.1_Missense_Mutation_p.R78K|PAEP_uc010nbc.1_Missense_Mutation_p.R78K|PAEP_uc004cgf.1_Missense_Mutation_p.R78K	p.R78K	NM_001018049	NP_001018059	P09466	PAEP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	2	277	+			78					Q5T6T1|Q9UG92	Missense_Mutation	SNP	ENST00000479141.1	37	c.233G>A	CCDS35173.1	.	.	.	.	.	.	.	.	.	.	G	2.680	-0.275654	0.05679	.	.	ENSG00000122133	ENST00000479141;ENST00000371767;ENST00000371766;ENST00000277508;ENST00000418284	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	1.15	-1.99	0.07457	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.09862	0.0242	N	0.17872	0.535	0.09310	N	1	P;B;P;D;B	0.57257	0.756;0.064;0.795;0.979;0.064	P;B;D;D;B	0.71414	0.567;0.055;0.92;0.973;0.097	T	0.11817	-1.0572	9	0.02654	T	1	.	2.1359	0.03762	0.3621:0.3366:0.3013:0.0	.	56;60;78;56;78	P09466-2;B2R4F9;A6XNE0;E9PH67;P09466	.;.;.;.;PAEP_HUMAN	K	78;56;78;78;30	ENSP00000417898:R78K;ENSP00000360831:R78K;ENSP00000277508:R78K;ENSP00000401933:R30K	ENSP00000277508:R78K	R	+	2	0	PAEP	137594097	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	-0.376000	0.07465	-0.633000	0.05545	0.313000	0.20887	AGA		0.622	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		11	80	0	0	0	0	11	80				
IL3RA	3563	broad.mit.edu	37	X	1471251	1471251	+	Silent	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chrX:1471251G>A	ENST00000331035.4	+	6	817	c.468G>A	c.(466-468)acG>acA	p.T156T	IL3RA_ENST00000381469.2_Silent_p.T78T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	156					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACTACAAAACGGATGCTCAGG	0.602																																						uc004cps.2		NA																	0				skin(2)|lung(1)	3						c.(466-468)ACG>ACA		interleukin 3 receptor, alpha precursor	Sargramostim(DB00020)						368.0	352.0	357.0					X																	1471251		2203	4296	6499	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1471251G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.468G>A	X.37:g.1471251G>A						IL3RA_uc011mhd.1_Silent_p.T78T	p.T156T	NM_002183	NP_002174	P26951	IL3RA_HUMAN			6	817	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	156			Extracellular (Potential).		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.468G>A	CCDS14113.1																																																																																				0.602	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			86	151	0	0	0	0	86	151				
ZMAT1	84460	broad.mit.edu	37	X	101159303	101159303	+	Splice_Site	SNP	T	T	C			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chrX:101159303T>C	ENST00000372782.3	-	3	169	c.122A>G	c.(121-123)gAc>gGc	p.D41G	ZMAT1_ENST00000540921.1_Splice_Site_p.D41G|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	41						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CCAAATGGCGTCTGTGAATAA	0.299																																						uc011mrl.1		NA																	0				ovary(1)	1						c.(121-123)GAC>GGC		zinc finger, matrin type 1 isoform 1							74.0	66.0	69.0					X																	101159303		2202	4298	6500	SO:0001630	splice_region_variant	84460					nucleus	zinc ion binding	g.chrX:101159303T>C	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.122-1A>G	X.37:g.101159303T>C						ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	p.D41G	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN			3	433	-			Error:Variant_position_missing_in_A7MD47_after_alignment					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.122A>G	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	6.858	0.527633	0.13127	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.07114	3.22;3.22	4.75	0.961	0.19638	.	.	.	.	.	T	0.02012	0.0063	N	0.00864	-1.135	0.80722	D	1	B	0.34103	0.437	B	0.29077	0.098	T	0.53528	-0.8426	9	0.39692	T	0.17	.	4.3557	0.11178	0.0:0.1911:0.1691:0.6398	.	41	Q5H9K5	ZMAT1_HUMAN	G	41	ENSP00000361868:D41G;ENSP00000437529:D41G	ENSP00000361868:D41G	D	-	2	0	ZMAT1	101045959	0.825000	0.29262	0.256000	0.24389	0.205000	0.24178	0.769000	0.26604	-0.011000	0.14247	0.478000	0.44815	GAC		0.299	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1		Missense_Mutation	8	15	0	0	0	0	8	15				
MAGEA4	4103	broad.mit.edu	37	X	151092296	151092296	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chrX:151092296G>A	ENST00000360243.2	+	3	427	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	MAGEA4_ENST00000370340.3_Missense_Mutation_p.V54M|MAGEA4_ENST00000370337.4_Missense_Mutation_p.V54M|MAGEA4_ENST00000393921.1_Missense_Mutation_p.V54M|MAGEA4_ENST00000393920.1_Missense_Mutation_p.V54M|MAGEA4_ENST00000276344.2_Missense_Mutation_p.V54M|MAGEA4_ENST00000370335.1_Missense_Mutation_p.V54M	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	54										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGAGGAAGTGCCTGCTGC	0.627																																						uc004fez.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(160-162)GTG>ATG		melanoma antigen family A, 4							68.0	64.0	66.0					X																	151092296		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092296G>A		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.160G>A	X.37:g.151092296G>A	ENSP00000353379:p.Val54Met					MAGEA4_uc004ffa.2_Missense_Mutation_p.V54M|MAGEA4_uc004ffb.2_Missense_Mutation_p.V54M|MAGEA4_uc004ffc.2_Missense_Mutation_p.V54M|MAGEA4_uc004ffd.2_Missense_Mutation_p.V54M	p.V54M	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	316	+	Acute lymphoblastic leukemia(192;6.56e-05)		54					Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.160G>A	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725487	0.30593	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33	2.13	0.135	0.14775	Melanoma associated antigen, MAGE, N-terminal (1);	13.425500	0.00166	N	0.000004	T	0.21387	0.0515	M	0.89904	3.07	0.09310	N	1	P	0.50369	0.934	P	0.51701	0.677	T	0.13282	-1.0515	10	0.56958	D	0.05	.	3.8117	0.08799	0.0:0.2708:0.4502:0.279	.	54	P43358	MAGA4_HUMAN	M	54	ENSP00000387777:V54M;ENSP00000276344:V54M;ENSP00000391904:V54M;ENSP00000377498:V54M;ENSP00000394149:V54M;ENSP00000359362:V54M;ENSP00000402624:V54M;ENSP00000377497:V54M;ENSP00000359365:V54M;ENSP00000394073:V54M;ENSP00000400900:V54M;ENSP00000402186:V54M;ENSP00000359360:V54M;ENSP00000353379:V54M;ENSP00000390096:V54M	ENSP00000276344:V54M	V	+	1	0	MAGEA4	150842952	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.050000	0.11904	-0.069000	0.12931	0.436000	0.28706	GTG		0.627	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		40	10	0	0	0	0	40	10				
FLNA	2316	broad.mit.edu	37	X	153596026	153596026	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chrX:153596026A>T	ENST00000369850.3	-	4	939	c.703T>A	c.(703-705)Tgg>Agg	p.W235R	FLNA_ENST00000360319.4_Missense_Mutation_p.W235R|FLNA_ENST00000422373.1_Missense_Mutation_p.W235R|FLNA_ENST00000344736.4_Missense_Mutation_p.W235R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	235	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGCCCAGCCAGTCATCCGCC	0.657																																						uc004fkk.2		NA																	0				breast(6)	6						c.(703-705)TGG>AGG		filamin A, alpha isoform 2							67.0	77.0	74.0					X																	153596026		2157	4267	6424	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153596026A>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.703T>A	X.37:g.153596026A>T	ENSP00000358866:p.Trp235Arg					FLNA_uc010nuu.1_Missense_Mutation_p.W235R	p.W235R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			4	952	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		235			CH 2.|Actin-binding.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.703T>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405243	0.42613	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	5.13	5.13	0.70059	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	L	0.45698	1.435	0.80722	D	1	P;D	0.58268	0.658;0.982	P;D	0.63033	0.814;0.91	D	0.95871	0.8891	10	0.87932	D	0	.	14.0424	0.64684	1.0:0.0:0.0:0.0	.	235;235	P21333-2;P21333	.;FLNA_HUMAN	R	235;208;235;235;235	ENSP00000353467:W235R;ENSP00000416926:W235R;ENSP00000358866:W235R;ENSP00000358863:W235R	ENSP00000358863:W235R	W	-	1	0	FLNA	153249220	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.475000	0.81041	1.693000	0.51124	0.414000	0.27820	TGG		0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			60	23	0	0	0	0	60	23				
TMSB4Y	9087	broad.mit.edu	37	Y	15816245	15816245	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chrY:15816245C>G	ENST00000284856.3	+	1	799	c.30C>G	c.(28-30)atC>atG	p.I10M		NM_004202.2	NP_004193.1	O14604	TYB4Y_HUMAN	thymosin beta 4, Y-linked	10					actin cytoskeleton organization (GO:0030036)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of cell migration (GO:0030334)|sequestering of actin monomers (GO:0042989)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)											TGGCTGAGATCGAGAAATTCG	0.483																																						uc004ftb.2		NA																	0					0						c.(28-30)ATC>ATG		thymosin, beta 4, Y chromosome							39.0	40.0	39.0					Y																	15816245		585	1910	2495	SO:0001583	missense	9087				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chrY:15816245C>G	AF000989	CCDS14786.1	Yq11.221	2013-09-20	2008-02-25		ENSG00000154620	ENSG00000154620			11882	protein-coding gene	gene with protein product		400017	"""thymosin, beta 4, Y chromosome"""			9381176	Standard	NM_004202		Approved	TB4Y	uc004ftb.3	O14604	OTTHUMG00000036366	ENST00000284856.3:c.30C>G	Y.37:g.15816245C>G	ENSP00000284856:p.Ile10Met						p.I10M	NM_004202	NP_004193	O14604	TYB4Y_HUMAN			1	799	+			10					Q0VDA2	Missense_Mutation	SNP	ENST00000284856.3	37	c.30C>G	CCDS14786.1																																																																																				0.483	TMSB4Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088534.1	NM_004202		4	5	0	0	0	0	4	5				
NPHP4	261734	broad.mit.edu	37	1	5993234	5993237	+	Frame_Shift_Del	DEL	TACC	TACC	-			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr1:5993234_5993237delTACC	ENST00000378156.4	-	10	1537_1540	c.1272_1275delGGTA	c.(1270-1275)aaggtafs	p.KV424fs	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	424					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTGAGGGTACCTTGTAGACCA	0.5																																						uc001alq.1		NA																	0				pancreas(1)	1						c.(1270-1275)AAGGTAfs		nephroretinin																																				SO:0001589	frameshift_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5993234_5993237delTACC	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1272_1275delGGTA	1.37:g.5993234_5993237delTACC	ENSP00000367398:p.Lys424fs					NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	p.K424fs	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	10	1538_1541	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	424_425					Q8IWC0	Frame_Shift_Del	DEL	ENST00000378156.4	37	c.1272_1275delGGTA	CCDS44052.1																																																																																				0.500	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			23	74	NA	NA	NA	NA	23	74	---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	329222	329222	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr10:329222delA	ENST00000280886.6	-	35	4371	c.4284delT	c.(4282-4284)gatfs	p.D1428fs	RNA5SP298_ENST00000364991.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1428						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCCATTTGCATCTGTGAGCT	0.547																																						uc001ifp.2		NA																	0				breast(4)|ovary(2)|large_intestine(1)	7						c.(4282-4284)GATfs		DIP2 disco-interacting protein 2 homolog C							91.0	92.0	91.0					10																	329222		2203	4300	6503	SO:0001589	frameshift_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:329222delA	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4284delT	10.37:g.329222delA	ENSP00000280886:p.Asp1428fs						p.D1428fs	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	35	4374	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1428					B4DPI5|Q5SS78	Frame_Shift_Del	DEL	ENST00000280886.6	37	c.4284delT	CCDS7054.1																																																																																				0.547	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		12	99	NA	NA	NA	NA	12	99	---	---	---	---
CCND1	595	broad.mit.edu	37	11	69466013	69466021	+	In_Frame_Del	DEL	CTTGCACAC	CTTGCACAC	-			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr11:69466013_69466021delCTTGCACAC	ENST00000227507.2	+	5	1078_1086	c.851_859delCTTGCACAC	c.(850-861)gcttgcacaccc>gcc	p.CTP285del	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	285					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.T286I(4)|p.P287S(2)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	gtggaCCTGGCTTGCACACCCACCGACGT	0.708			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	uc001opa.2		NA		Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	IGH@|FSTL3		CLL|B-ALL|breast		6	Substitution - Missense(6)		endometrium(6)	ovary(1)|lung(1)	2						c.(850-861)GCTTGCACACCC>GCC		cyclin D1	Arsenic trioxide(DB01169)																																			SO:0001651	inframe_deletion	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69466013_69466021delCTTGCACAC	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.851_859delCTTGCACAC	11.37:g.69466013_69466021delCTTGCACAC	ENSP00000227507:p.Cys285_Pro287del	Multiple Myeloma(6;0.086)					p.CTP285del	NM_053056	NP_444284	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		5	1060_1068	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		285_287					Q6LEF0	In_Frame_Del	DEL	ENST00000227507.2	37	c.851_859delCTTGCACAC	CCDS8191.1																																																																																				0.708	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		6	7	NA	NA	NA	NA	6	7	---	---	---	---
RARG	5916	broad.mit.edu	37	12	53608326	53608338	+	Frame_Shift_Del	DEL	ATAGCTGTCAGGT	ATAGCTGTCAGGT	-	rs372490193		TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:53608326_53608338delATAGCTGTCAGGT	ENST00000425354.2	-	6	1015_1027	c.528_540delACCTGACAGCTAT	c.(526-540)tcacctgacagctatfs	p.SPDSY176fs	RARG_ENST00000543726.1_Frame_Shift_Del_p.SPDSY154fs|RARG_ENST00000338561.5_Frame_Shift_Del_p.SPDSY165fs|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Frame_Shift_Del_p.SPDSY104fs|RARG_ENST00000394426.1_Frame_Shift_Del_p.SPDSY176fs	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	176	Hinge.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCTCAGCTCATAGCTGTCAGGTGACCCTTCTT	0.559																																						uc001sce.2		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(526-540)TCACCTGACAGCTATfs		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)																																			SO:0001589	frameshift_variant	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53608326_53608338delATAGCTGTCAGGT	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.528_540delACCTGACAGCTAT	12.37:g.53608326_53608338delATAGCTGTCAGGT	ENSP00000388510:p.Ser176fs					RARG_uc001scd.2_Frame_Shift_Del_p.S165fs|RARG_uc010sob.1_Frame_Shift_Del_p.S154fs|RARG_uc001scf.2_Frame_Shift_Del_p.S176fs|RARG_uc001scg.2_Frame_Shift_Del_p.S104fs|RARG_uc010soc.1_Frame_Shift_Del_p.S55fs|RARG_uc010sod.1_Frame_Shift_Del_p.S213fs	p.S176fs	NM_000966	NP_000957	P13631	RARG_HUMAN			6	1013_1025	-			176_180			Hinge.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Frame_Shift_Del	DEL	ENST00000425354.2	37	c.528_540delACCTGACAGCTAT	CCDS8850.1																																																																																				0.559	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		9	48	NA	NA	NA	NA	9	48	---	---	---	---
RAP1B	5908	broad.mit.edu	37	12	69042549	69042549	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:69042549delA	ENST00000250559.9	+	2	276	c.45delA	c.(43-45)ggafs	p.G15fs	RAP1B_ENST00000543697.1_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000541216.1_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000540209.1_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000450214.2_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000341355.5_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000393436.5_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000542145.1_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000537460.1_Frame_Shift_Del_p.G15fs|RAP1B_ENST00000539091.1_Frame_Shift_Del_p.G15fs	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	15					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		GAGGCGTTGGAAAGTCTGCTT	0.363																																						uc001sub.2		NA																	0					0						c.(43-45)GGAfs		SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;							108.0	88.0	95.0					12																	69042549		2203	4300	6503	SO:0001589	frameshift_variant	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69042549delA		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.45delA	12.37:g.69042549delA	ENSP00000250559:p.Gly15fs					RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Frame_Shift_Del_p.G15fs|RAP1B_uc010stf.1_Frame_Shift_Del_p.G15fs|RAP1B_uc010stg.1_Frame_Shift_Del_p.G15fs|RAP1B_uc010sth.1_Frame_Shift_Del_p.G15fs|RAP1B_uc010sti.1_Frame_Shift_Del_p.G15fs	p.G15fs	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	2	208	+	Breast(13;1.24e-05)		15			GTP.		B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Frame_Shift_Del	DEL	ENST00000250559.9	37	c.45delA	CCDS8984.1																																																																																				0.363	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		13	33	NA	NA	NA	NA	13	33	---	---	---	---
TESC	54997	broad.mit.edu	37	12	117479755	117479755	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr12:117479755delC	ENST00000335209.7	-	7	750	c.564delG	c.(562-564)ctgfs	p.L188fs	TESC_ENST00000541210.1_Frame_Shift_Del_p.L161fs|TESC_ENST00000392545.4_Frame_Shift_Del_p.L241fs			Q96BS2	CHP3_HUMAN	tescalcin	188					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CACCCACCTTCAGGAAGTCCT	0.632																																						uc001twh.2		NA																	0					0						c.(721-723)CTGfs		tescalcin							30.0	36.0	34.0					12																	117479755		1978	4155	6133	SO:0001589	frameshift_variant	54997				negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	g.chr12:117479755delC	AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.564delG	12.37:g.117479755delC	ENSP00000334785:p.Leu188fs					TESC_uc001twi.2_RNA	p.L241fs	NM_017899	NP_060369	Q96BS2	TESC_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0297)	7	728	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		188					F5H1Y5|Q9NWT9	Frame_Shift_Del	DEL	ENST00000335209.7	37	c.723delG	CCDS9183.3																																																																																				0.632	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899		2	4	NA	NA	NA	NA	2	4	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179458509	179458510	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:179458509_179458510insT	ENST00000591111.1	-	248	53818_53819	c.53594_53595insA	c.(53593-53595)gatfs	p.D17865fs	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.D10633fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.D16938fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.D10441fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.D10566fs|TTN_ENST00000589042.1_Frame_Shift_Ins_p.D19506fs|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17865	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TGCCTCCATCATCTAAAGGAGG	0.416																																						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.(50812-50814)GATfs		titin isoform N2-A																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458509_179458510insT	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.53595dupA	2.37:g.179458510_179458510dupT	ENSP00000465570:p.Asp17865fs					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Ins_p.D10633fs|TTN_uc010zfi.1_Frame_Shift_Ins_p.D10566fs|TTN_uc010zfj.1_Frame_Shift_Ins_p.D10441fs	p.D16938fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		247	51037_51038	-			17865					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	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.50813_50814insA																																																																																					0.416	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	41	NA	NA	NA	NA	19	41	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179616191	179616192	+	Intron	INS	-	-	T			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:179616191_179616192insT	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Frame_Shift_Ins_p.Q3646fs|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACATCTTGTTTTTTGTTAA	0.371																																						uc002unb.2		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.(10933-10938)AAACAAfs		titin isoform novex-3																																				SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616191_179616192insT	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.10360+1658->A	2.37:g.179616197_179616197dupT						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.K3645fs	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11159_11160	-			9490_Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.10935_10936insA																																																																																					0.371	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	95	NA	NA	NA	NA	47	95	---	---	---	---
C2orf83	56918	broad.mit.edu	37	2	228476153	228476165	+	Frame_Shift_Del	DEL	TCTTGTGGCTTCT	TCTTGTGGCTTCT	-			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr2:228476153_228476165delTCTTGTGGCTTCT	ENST00000264387.4	-	3	484_496	c.398_410delAGAAGCCACAAGA	c.(397-411)aagaagccacaagatfs	p.KKPQD133fs	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	133					transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GAGCACCGAATCTTGTGGCTTCTTGTTCTCTGT	0.493																																						uc002vph.2		NA																	0					0						c.(397-411)AAGAAGCCACAAGATfs		hypothetical protein LOC56918 isoform 1																																				SO:0001589	frameshift_variant	56918					membrane	folic acid binding|reduced folate carrier activity	g.chr2:228476153_228476165delTCTTGTGGCTTCT		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.398_410delAGAAGCCACAAGA	2.37:g.228476153_228476165delTCTTGTGGCTTCT	ENSP00000264387:p.Lys133fs					C2orf83_uc010zlu.1_3'UTR	p.K133fs	NM_020161	NP_064546	Q53S99	CB083_HUMAN			3	633_645	-			133_137					A2RRG6|B8ZZI8|Q9NPW4	Frame_Shift_Del	DEL	ENST00000264387.4	37	c.398_410delAGAAGCCACAAGA	CCDS33388.1																																																																																				0.493	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		9	89	NA	NA	NA	NA	9	89	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41306573	41306573	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr20:41306573delG	ENST00000373187.1	-	7	1085	c.1086delC	c.(1084-1086)ctcfs	p.L362fs	PTPRT_ENST00000373198.4_Frame_Shift_Del_p.L362fs|PTPRT_ENST00000373190.1_Frame_Shift_Del_p.L362fs|PTPRT_ENST00000356100.2_Frame_Shift_Del_p.L362fs|PTPRT_ENST00000373201.1_Frame_Shift_Del_p.L362fs|PTPRT_ENST00000373193.3_Frame_Shift_Del_p.L362fs|PTPRT_ENST00000373184.1_Frame_Shift_Del_p.L362fs			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	362	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGGTCGTGTGAGGAGCACTC	0.567																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(1084-1086)CTCfs		protein tyrosine phosphatase, receptor type, T							108.0	109.0	109.0					20																	41306573		1961	4163	6124	SO:0001589	frameshift_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306573delG	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1086delC	20.37:g.41306573delG	ENSP00000362283:p.Leu362fs					PTPRT_uc010ggj.2_Frame_Shift_Del_p.L362fs	p.L362fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN			7	1270	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	362			Extracellular (Potential).|Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Frame_Shift_Del	DEL	ENST00000373187.1	37	c.1086delC	CCDS42874.1																																																																																				0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			24	106	NA	NA	NA	NA	24	106	---	---	---	---
LYAR	55646	broad.mit.edu	37	4	4270287	4270287	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr4:4270287delA	ENST00000343470.4	-	9	1215	c.975delT	c.(973-975)aatfs	p.N325fs	LYAR_ENST00000452476.1_Frame_Shift_Del_p.N325fs	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	325	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGTTATTTCATTGTCTGGGG	0.333																																						uc011bvy.1		NA																	0					0						c.(973-975)AATfs		Ly1 antibody reactive homolog							214.0	204.0	208.0					4																	4270287		2203	4300	6503	SO:0001589	frameshift_variant	55646					nucleolus	metal ion binding|protein binding	g.chr4:4270287delA	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.975delT	4.37:g.4270287delA	ENSP00000345917:p.Asn325fs					LYAR_uc011bvx.1_Frame_Shift_Del_p.N208fs|LYAR_uc003ght.2_Frame_Shift_Del_p.N325fs	p.N325fs	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	1118	-			325			Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	Frame_Shift_Del	DEL	ENST00000343470.4	37	c.975delT	CCDS3374.1																																																																																				0.333	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		10	100	NA	NA	NA	NA	10	100	---	---	---	---
HIST1H1C	3006	broad.mit.edu	37	6	26056548	26056549	+	Frame_Shift_Ins	INS	-	-	A	rs10425	byFrequency	TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr6:26056548_26056549insA	ENST00000343677.2	-	1	150_151	c.108_109insT	c.(106-111)tctggtfs	p.G37fs		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	37	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						ACCGGGGGACCAGACGCCTTAC	0.634																																						uc003nfw.2		NA																	0				ovary(3)|skin(2)	5						c.(106-111)TCTGGTfs		histone cluster 1, H1c																																				SO:0001589	frameshift_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056548_26056549insA	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.109dupT	6.37:g.26056549_26056549dupA	ENSP00000339566:p.Gly37fs						p.S36fs	NM_005319	NP_005310	P16403	H12_HUMAN			1	151_152	-			36_37			H15.		A8K4I2	Frame_Shift_Ins	INS	ENST00000343677.2	37	c.108_109insT	CCDS4577.1																																																																																				0.634	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		39	15	NA	NA	NA	NA	39	15	---	---	---	---
POR	5447	broad.mit.edu	37	7	75612906	75612907	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr7:75612906_75612907insG	ENST00000461988.1	+	9	1004_1005	c.899_900insG	c.(898-903)gagcgcfs	p.R301fs	POR_ENST00000419840.1_Frame_Shift_Ins_p.R115fs|POR_ENST00000450476.1_Frame_Shift_Ins_p.R200fs|POR_ENST00000394893.1_Frame_Shift_Ins_p.R301fs|POR_ENST00000439269.1_Frame_Shift_Ins_p.R39fs|POR_ENST00000545601.1_Frame_Shift_Ins_p.R109fs	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	298	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CAGGGAACCGAGCGCCACCTCA	0.599																																						uc003udy.2		NA																	0				central_nervous_system(1)	1						c.(898-900)GAGfs		cytochrome P450 reductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)																																			SO:0001589	frameshift_variant	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75612906_75612907insG	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.900dupG	7.37:g.75612907_75612907dupG	ENSP00000419970:p.Arg301fs					POR_uc011kgc.1_Frame_Shift_Ins_p.E108fs|POR_uc011kgd.1_Frame_Shift_Ins_p.E199fs|POR_uc011kge.1_Frame_Shift_Ins_p.E38fs|POR_uc003uea.2_5'Flank	p.E300fs	NM_000941	NP_000932	P16435	NCPR_HUMAN			9	981_982	+			297			FAD-binding FR-type.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Frame_Shift_Ins	INS	ENST00000461988.1	37	c.899_900insG	CCDS5579.1																																																																																				0.599	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		23	82	NA	NA	NA	NA	23	82	---	---	---	---
C9orf173	441476	broad.mit.edu	37	9	140145786	140145788	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CV-6441-01A-11D-1683-08	TCGA-CV-6441-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b32736-3b91-4542-affa-46fa90819e69	2b352deb-ee25-4b74-bcb0-be4e445970d2	g.chr9:140145786_140145788delCAT	ENST00000412566.1	+	1	57_59	c.48_50delCAT	c.(46-51)tacatc>tac	p.I17del	C9orf173_ENST00000388931.3_In_Frame_Del_p.I17del			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	17										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						CAAATTTTTACATCAATGGAGGC	0.567																																						uc004cmk.1		NA																	0				pancreas(1)	1						c.(43-48)TACATC>TAC		SubName: Full=LOC441476 protein;																																				SO:0001651	inframe_deletion	441476							g.chr9:140145786_140145788delCAT		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.48_50delCAT	9.37:g.140145786_140145788delCAT	ENSP00000391218:p.Ile17del					C9orf173_uc004cmj.1_In_Frame_Del_p.I17del|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_In_Frame_Del_p.I16del|C9orf173_uc004cml.1_In_Frame_Del_p.I16del	p.I16del			Q8N7X2	CI173_HUMAN			1	57_59	+			17					A2RU24|B7ZM72|B7ZM76|Q8NEA3	In_Frame_Del	DEL	ENST00000412566.1	37	c.45_47delCAT	CCDS48065.1																																																																																				0.567	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004353		138	40	NA	NA	NA	NA	138	40	---	---	---	---
