#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
CLCNKA	1187	broad.mit.edu	37	1	16357081	16357081	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:16357081G>T	ENST00000331433.4	+	15	1553	c.1534G>T	c.(1534-1536)Gca>Tca	p.A512S	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A469S|CLCNKA_ENST00000375692.1_Missense_Mutation_p.A512S|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A512S			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	512					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CAACGCCATTGCACAGAGCTG	0.612																																						uc001axu.2		NA																	0				ovary(1)	1						c.(1534-1536)GCA>TCA		chloride channel Ka isoform 1	Niflumic Acid(DB04552)						45.0	41.0	42.0					1																	16357081		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16357081G>T		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1534G>T	1.37:g.16357081G>T	ENSP00000332771:p.Ala512Ser					CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A512S|CLCNKA_uc010obw.1_Missense_Mutation_p.A469S|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_Missense_Mutation_p.A159S|CLCNKA_uc010oby.1_Missense_Mutation_p.A248S	p.A512S	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	15	1614	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	512					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1534G>T	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566024	0.27915	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	3.89	2.84	0.33178	Chloride channel, core (2);	0.316249	0.35805	N	0.002974	D	0.88325	0.6406	L	0.31065	0.9	0.45914	D	0.998757	B;B;B;B	0.29508	0.246;0.04;0.011;0.011	B;B;B;B	0.40329	0.326;0.07;0.024;0.024	T	0.81037	-0.1114	10	0.38643	T	0.18	.	3.2465	0.06799	0.1999:0.0:0.4909:0.3092	.	248;469;512;512	B4DE56;E7EPH6;Q5T5Q4;P51800	.;.;.;CLCKA_HUMAN	S	512;512;469;512	ENSP00000364844:A512S;ENSP00000410353:A512S;ENSP00000414445:A469S;ENSP00000332771:A512S	ENSP00000332771:A512S	A	+	1	0	CLCNKA	16229668	0.003000	0.15002	1.000000	0.80357	0.570000	0.35934	0.040000	0.13905	0.738000	0.32606	0.313000	0.20887	GCA		0.612	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			27	19	1	0	4.6e-10	6.93e-10	27	19				
NBPF1	55672	broad.mit.edu	37	1	16890588	16890588	+	Silent	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:16890588T>A	ENST00000430580.2	-	29	4157	c.3270A>T	c.(3268-3270)ctA>ctT	p.L1090L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1070	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATGAGTCAGGTAGTTCAAAGT	0.463																																						uc009vos.1		NA																	0					0						c.(3493-3495)CTA>CTT		hypothetical protein LOC55672							612.0	522.0	553.0					1																	16890588		2203	4294	6497	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16890588T>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3270A>T	1.37:g.16890588T>A						uc001ayw.2_5'Flank	p.L1165L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	31	4383	-			1165			NBPF 8.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.3495A>T																																																																																					0.463	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		47	673	0	0	0	0	47	673				
MAP3K6	9064	broad.mit.edu	37	1	27684364	27684364	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:27684364C>A	ENST00000493901.1	-	23	3158	c.2919G>T	c.(2917-2919)gtG>gtT	p.V973V	MAP3K6_ENST00000374040.3_Silent_p.V965V|MAP3K6_ENST00000357582.2_Silent_p.V973V	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	973					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCCTCGGGCACCCTGGGCA	0.657											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bny.1		NA																	0				breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9						c.(2917-2919)GTG>GTT		mitogen-activated protein kinase kinase kinase							8.0	9.0	9.0					1																	27684364		2182	4282	6464	SO:0001819	synonymous_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27684364C>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2919G>T	1.37:g.27684364C>A			OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	796	MAP3K6_uc009vsw.1_Silent_p.V965V	p.V973V	NM_004672	NP_004663	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	22	3168	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	973					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	c.2919G>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485621	0.26686	.	.	ENSG00000142733	ENST00000472410	.	.	.	5.08	2.15	0.27550	.	.	.	.	.	T	0.45875	0.1364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26155	-1.0111	4	.	.	.	.	3.3829	0.07261	0.4132:0.3648:0.1384:0.0835	.	.	.	.	F	697	.	.	C	-	2	0	MAP3K6	27556951	0.824000	0.29247	0.999000	0.59377	0.948000	0.59901	-0.295000	0.08298	0.299000	0.22661	0.655000	0.94253	TGC		0.657	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		5	2	1	0	0.00116845	0.00154758	5	2				
BAI2	576	broad.mit.edu	37	1	32221746	32221746	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:32221746G>C	ENST00000373658.3	-	4	1033	c.692C>G	c.(691-693)gCc>gGc	p.A231G	BAI2_ENST00000398547.1_Missense_Mutation_p.A219G|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000257070.4_Missense_Mutation_p.A231G|BAI2_ENST00000398538.1_Missense_Mutation_p.A219G|BAI2_ENST00000527361.1_Missense_Mutation_p.A231G|BAI2_ENST00000398556.3_Missense_Mutation_p.A234G|BAI2_ENST00000398542.1_Missense_Mutation_p.A219G|BAI2_ENST00000373655.2_Missense_Mutation_p.A231G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	231					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A231G(2)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGTGGAGCCGGCCCCCGCCTC	0.711																																						uc001btn.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(691-693)GCC>GGC		brain-specific angiogenesis inhibitor 2							25.0	33.0	30.0					1																	32221746		2201	4297	6498	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221746G>C	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.692C>G	1.37:g.32221746G>C	ENSP00000362762:p.Ala231Gly					BAI2_uc010ogp.1_Missense_Mutation_p.A219G|BAI2_uc010ogq.1_Missense_Mutation_p.A231G|BAI2_uc001bto.2_Missense_Mutation_p.A231G|BAI2_uc001btq.1_Missense_Mutation_p.A219G|BAI2_uc010ogr.1_Missense_Mutation_p.A219G	p.A231G	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	1046	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	231			Extracellular (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.692C>G	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	2.541	-0.306384	0.05458	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.45276	1.59;1.79;0.95;0.95;1.96;0.9;0.9;0.98;1.58;1.43	5.08	4.17	0.49024	.	0.353687	0.20794	N	0.085578	T	0.20901	0.0503	N	0.08118	0	0.43122	D	0.994846	B;B;B;B;B;B	0.30281	0.0;0.275;0.054;0.001;0.026;0.015	B;B;B;B;B;B	0.26614	0.0;0.071;0.047;0.001;0.034;0.015	T	0.07443	-1.0772	10	0.25751	T	0.34	.	9.8209	0.40883	0.0967:0.0:0.9033:0.0	.	219;231;219;219;231;231	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	G	234;219;231;231;219;231;231;219;224;265	ENSP00000381564:A234G;ENSP00000381555:A219G;ENSP00000362762:A231G;ENSP00000362759:A231G;ENSP00000381550:A219G;ENSP00000257070:A231G;ENSP00000435397:A231G;ENSP00000381548:A219G;ENSP00000410921:A224G;ENSP00000437219:A265G	ENSP00000257070:A231G	A	-	2	0	BAI2	31994333	0.014000	0.17966	0.066000	0.19879	0.322000	0.28314	1.196000	0.32198	1.283000	0.44513	0.462000	0.41574	GCC		0.711	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		5	41	0	0	0	0	5	41				
DLGAP3	58512	broad.mit.edu	37	1	35333227	35333227	+	Splice_Site	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:35333227G>T	ENST00000373347.1	-	10	2755	c.2487C>A	c.(2485-2487)atC>atA	p.I829I	DLGAP3_ENST00000235180.4_Splice_Site_p.I829I			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	829					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCTTCTCCAGGACTAGAAAGC	0.557																																						uc001byc.2		NA																	0				ovary(3)	3						c.(2485-2487)ATC>ATA		discs, large (Drosophila) homolog-associated							108.0	105.0	106.0					1																	35333227		2203	4300	6503	SO:0001630	splice_region_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35333227G>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2486-1C>A	1.37:g.35333227G>T							p.I829I	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			8	2487	-		Myeloproliferative disorder(586;0.0393)	829					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.2487C>A	CCDS30670.1																																																																																				0.557	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234	Silent	67	23	1	0	2.73e-28	4.7e-28	67	23				
OXCT2	64064	broad.mit.edu	37	1	40235514	40235514	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:40235514C>T	ENST00000327582.5	-	1	1506	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	472					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)	p.V472L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	ACGTCAAACACGGCCTTCTCG	0.587																																						uc001ceb.1		NA																	1	Substitution - Missense(1)		breast(1)	pancreas(1)	1						c.(1414-1416)GTG>ATG		3-oxoacid CoA transferase 2 precursor	Succinic acid(DB00139)						70.0	67.0	68.0					1																	40235514		2203	4300	6503	SO:0001583	missense	64064				ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity	g.chr1:40235514C>T	AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1414G>A	1.37:g.40235514C>T	ENSP00000361914:p.Val472Met					BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Missense_Mutation_p.V466M	p.V472M	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	1507	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	472					B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP	ENST00000327582.5	37	c.1414G>A	CCDS445.1	.	.	.	.	.	.	.	.	.	.	c	16.40	3.113858	0.56398	.	.	ENSG00000198754	ENST00000327582	D	0.92805	-3.11	2.51	1.56	0.23342	3-oxoacid CoA-transferase, subunit B (1);	0.000000	0.85682	U	0.000000	D	0.93223	0.7841	.	.	.	0.46478	D	0.99906	D;D	0.71674	0.998;0.998	P;P	0.57152	0.814;0.814	D	0.91917	0.5544	9	0.87932	D	0	-23.1311	8.5086	0.33204	0.2328:0.7672:0.0:0.0	.	472;472	B3KS89;Q9BYC2	.;SCOT2_HUMAN	M	472	ENSP00000361914:V472M	ENSP00000361914:V472M	V	-	1	0	OXCT2	40008101	0.989000	0.36119	0.138000	0.22173	0.262000	0.26303	3.025000	0.49681	0.582000	0.29556	0.556000	0.70494	GTG		0.587	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025656.1	NM_022120		83	44	0	0	0	0	83	44				
RLF	6018	broad.mit.edu	37	1	40705148	40705148	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:40705148G>A	ENST00000372771.4	+	8	4801	c.4774G>A	c.(4774-4776)Gtt>Att	p.V1592I		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1592					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)			TGTTGTTTGCGTTAAGTACGG	0.428																																						uc001cfc.3		NA																	0				ovary(2)|pancreas(1)	3						c.(4774-4776)GTT>ATT		rearranged L-myc fusion							65.0	62.0	63.0					1																	40705148		2203	4300	6503	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.chr1:40705148G>A		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.4774G>A	1.37:g.40705148G>A	ENSP00000361857:p.Val1592Ile					RLF_uc001cfd.3_Missense_Mutation_p.V1283I	p.V1592I	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	4805	+	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)	1592					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.4774G>A	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381273	0.42207	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14266	2.52	6.15	6.15	0.99193	.	0.055570	0.64402	D	0.000001	T	0.21468	0.0517	L	0.43152	1.355	0.49299	D	0.999775	D;P	0.55800	0.973;0.835	P;B	0.47044	0.535;0.251	T	0.00043	-1.2223	10	0.56958	D	0.05	-12.565	20.8387	0.99724	0.0:0.0:1.0:0.0	.	1285;1592	F5H2M5;Q13129	.;RLF_HUMAN	I	1592;1285	ENSP00000361857:V1592I	ENSP00000361857:V1592I	V	+	1	0	RLF	40477735	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.749000	0.55150	2.932000	0.99384	0.643000	0.83706	GTT		0.428	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		21	98	0	0	0	0	21	98				
MOB3C	148932	broad.mit.edu	37	1	47078896	47078896	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:47078896T>G	ENST00000319928.3	-	2	328	c.98A>C	c.(97-99)aAg>aCg	p.K33T	MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.K85T|MOB3C_ENST00000371940.1_Missense_Mutation_p.K56T|MKNK1_ENST00000545730.1_Intron	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	33							metal ion binding (GO:0046872)										GGCCTGTGCCTTCTTGTACAG	0.637																																						uc001cqf.3		NA																	0				pancreas(1)	1						c.(97-99)AAG>ACG		MOB1, Mps One Binder kinase activator-like 2C							76.0	63.0	68.0					1																	47078896		2203	4300	6503	SO:0001583	missense	148932						metal ion binding	g.chr1:47078896T>G	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.98A>C	1.37:g.47078896T>G	ENSP00000315113:p.Lys33Thr					MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Missense_Mutation_p.K85T	p.K33T	NM_201403	NP_958805	Q70IA8	MOL2C_HUMAN			2	329	-	Acute lymphoblastic leukemia(166;0.155)		33					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.98A>C	CCDS540.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710771	0.68730	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.2	5.2	0.72013	.	0.045954	0.85682	D	0.000000	T	0.70228	0.3200	M	0.67953	2.075	0.58432	D	0.999994	P	0.42337	0.776	P	0.50896	0.653	T	0.70835	-0.4764	9	0.41790	T	0.15	-38.2192	14.2486	0.66004	0.0:0.0:0.0:1.0	.	33	Q70IA8	MOB3C_HUMAN	T	33;85;56	.	ENSP00000271139:K85T	K	-	2	0	MOBKL2C	46851483	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.873000	0.63057	1.968000	0.57251	0.421000	0.28195	AAG		0.637	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		24	18	0	0	0	0	24	18				
ZRANB2	9406	broad.mit.edu	37	1	71544178	71544178	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:71544178G>C	ENST00000370920.3	-	3	481	c.180C>G	c.(178-180)agC>agG	p.S60R	ZRANB2-AS2_ENST00000596952.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.S60R|ZRANB2-AS2_ENST00000455406.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	60					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ATAGGCCTCGGCTCTTTTCTG	0.378																																						uc001dft.2		NA																	0				ovary(2)	2						c.(178-180)AGC>AGG		zinc finger protein 265 isoform 1							118.0	123.0	121.0					1																	71544178		2203	4300	6503	SO:0001583	missense	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71544178G>C	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.180C>G	1.37:g.71544178G>C	ENSP00000359958:p.Ser60Arg					uc001dfu.1_5'Flank|ZRANB2_uc001dfs.2_Missense_Mutation_p.S60R	p.S60R	NM_203350	NP_976225	O95218	ZRAB2_HUMAN			3	247	-			60					D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	c.180C>G	CCDS659.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853728	0.71719	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.77358	-1.09;-1.09	5.53	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.74674	0.944;0.984	D	0.84754	0.0758	10	0.72032	D	0.01	.	13.7735	0.63039	0.0734:0.0:0.9266:0.0	.	60;60	O95218;O95218-2	ZRAB2_HUMAN;.	R	60	ENSP00000359958:S60R;ENSP00000254821:S60R	ENSP00000254821:S60R	S	-	3	2	ZRANB2	71316766	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	2.647000	0.46639	2.614000	0.88457	0.467000	0.42956	AGC		0.378	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		8	59	0	0	0	0	8	59				
LRIF1	55791	broad.mit.edu	37	1	111490596	111490596	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:111490596C>T	ENST00000369763.4	-	4	2685	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Silent_p.K229K|LRIF1_ENST00000485275.2_Silent_p.K229K	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTGGTGCATCTTCTTACGCA	0.348																																						uc001eaa.2		NA																	0					0						c.(2293-2295)AAG>AAA		receptor-interacting factor 1 isoform 1							89.0	97.0	94.0					1																	111490596		2202	4298	6500	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111490596C>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.2295G>A	1.37:g.111490596C>T						C1orf103_uc001dzz.2_Silent_p.K229K|C1orf103_uc001eab.2_Silent_p.K229K|C1orf103_uc001eac.1_Silent_p.K228K	p.K765K	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	4	2551	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	765			Potential.		Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.2295G>A	CCDS30800.1																																																																																				0.348	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		20	79	0	0	0	0	20	79				
MAGI3	260425	broad.mit.edu	37	1	114193672	114193672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:114193672G>T	ENST00000307546.9	+	14	2359	c.2284G>T	c.(2284-2286)Gag>Tag	p.E762*	MAGI3_ENST00000369615.1_Nonsense_Mutation_p.E762*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.E787*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.E762*	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	787	Interaction with BAI1.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAGCAGCTGAGAAAGATGG	0.418																																						uc001edk.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2284-2286)GAG>TAG		membrane-associated guanylate kinase-related  3							104.0	101.0	102.0					1																	114193672		2203	4300	6503	SO:0001587	stop_gained	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114193672G>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2284G>T	1.37:g.114193672G>T	ENSP00000304604:p.Glu762*					MAGI3_uc001edh.3_Nonsense_Mutation_p.E787*|MAGI3_uc001edi.3_Nonsense_Mutation_p.E762*|MAGI3_uc010owm.1_Nonsense_Mutation_p.E787*|MAGI3_uc001edj.2_Nonsense_Mutation_p.E483*	p.E762*	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2465	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	787			Interaction with BAI1.|PDZ 4.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Nonsense_Mutation	SNP	ENST00000307546.9	37	c.2284G>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	42	9.564274	0.99205	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.7699	19.9145	0.97053	0.0:0.0:1.0:0.0	.	.	.	.	X	787;762;762;762	.	ENSP00000304604:E762X	E	+	1	0	MAGI3	113995195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.709000	0.92574	0.655000	0.94253	GAG		0.418	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		18	20	1	0	2.94e-08	4.29e-08	18	20				
SYCP1	6847	broad.mit.edu	37	1	115537355	115537355	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:115537355T>A	ENST00000369522.3	+	31	2980	c.2740T>A	c.(2740-2742)Tat>Aat	p.Y914N	SYCP1_ENST00000369518.1_Missense_Mutation_p.Y914N|SYCP1_ENST00000477590.1_3'UTR	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	914					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAACACTGTATAGGAACAA	0.284																																						uc001efr.2		NA																	0				skin(1)	1						c.(2740-2742)TAT>AAT		synaptonemal complex protein 1							34.0	37.0	36.0					1																	115537355		2197	4288	6485	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115537355T>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2740T>A	1.37:g.115537355T>A	ENSP00000358535:p.Tyr914Asn					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.Y914N|SYCP1_uc009wgw.2_Missense_Mutation_p.Y889N	p.Y914N	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	31	2949	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	914					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2740T>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	T	2.425	-0.332112	0.05314	.	.	ENSG00000198765	ENST00000369522;ENST00000369518	T;T	0.32272	1.46;1.46	4.36	-0.962	0.10333	.	0.687962	0.13253	N	0.401916	T	0.11410	0.0278	L	0.59436	1.845	0.09310	N	1	B;B	0.25719	0.132;0.132	B;B	0.27715	0.082;0.082	T	0.30765	-0.9967	10	0.38643	T	0.18	3.9947	8.2076	0.31465	0.0:0.3425:0.0:0.6575	.	914;914	B7ZLS9;Q15431	.;SYCP1_HUMAN	N	914	ENSP00000358535:Y914N;ENSP00000358531:Y914N	ENSP00000358531:Y914N	Y	+	1	0	SYCP1	115338878	0.065000	0.20965	0.000000	0.03702	0.002000	0.02628	0.835000	0.27531	-0.537000	0.06290	-0.624000	0.04008	TAT		0.284	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		22	7	0	0	0	0	22	7				
SPAG17	200162	broad.mit.edu	37	1	118537063	118537063	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:118537063C>A	ENST00000336338.5	-	35	5209	c.5144G>T	c.(5143-5145)cGg>cTg	p.R1715L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1715						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)		TGACCTTGACCGGAGATTAGG	0.423																																						uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(5143-5145)CGG>CTG		sperm associated antigen 17							178.0	156.0	164.0					1																	118537063		2203	4299	6502	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118537063C>A		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.5144G>T	1.37:g.118537063C>A	ENSP00000337804:p.Arg1715Leu						p.R1715L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	35	5212	-	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)	1715					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5144G>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004712	0.35320	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.23147	1.92	5.64	-0.941	0.10402	.	0.550723	0.21196	N	0.078551	T	0.05227	0.0139	L	0.27053	0.805	0.28299	N	0.923184	B	0.31193	0.312	B	0.22753	0.041	T	0.26292	-1.0107	10	0.51188	T	0.08	.	9.3307	0.38021	0.0:0.3831:0.0:0.6169	.	1715	Q6Q759	SPG17_HUMAN	L	1715;195	ENSP00000337804:R1715L	ENSP00000337804:R1715L	R	-	2	0	SPAG17	118338586	0.997000	0.39634	0.736000	0.30914	0.692000	0.40212	0.339000	0.19875	-0.253000	0.09514	-1.223000	0.01593	CGG		0.423	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		13	12	1	0	1.5e-05	2.08e-05	13	12				
HMGCS2	3158	broad.mit.edu	37	1	120311418	120311418	+	Missense_Mutation	SNP	G	G	A	rs587712415		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:120311418G>A	ENST00000369406.3	-	1	99	c.50C>T	c.(49-51)gCg>gTg	p.A17V	HMGCS2_ENST00000544913.2_Missense_Mutation_p.A17V	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	17					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTCCTGCACCGCTCTTGTCAG	0.517													G|||	0	0.0	0.0	0.0	5008	,	,		19605	0.0		0.0	False		,,,				2504	0.0					uc001eid.2		NA																	0				ovary(2)	2						c.(49-51)GCG>GTG		hydroxymethylglutaryl-CoA synthase 2 isoform 1							91.0	79.0	83.0					1																	120311418		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120311418G>A	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.50C>T	1.37:g.120311418G>A	ENSP00000358414:p.Ala17Val					HMGCS2_uc010oxj.1_Missense_Mutation_p.A17V	p.A17V	NM_005518	NP_005509	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	1	101	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	17					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.50C>T	CCDS905.1	.	.	.	.	.	.	.	.	.	.	G	1.374	-0.585374	0.03827	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.90261	-2.64;-2.38	4.32	-5.0	0.03001	.	1.016370	0.07902	N	0.972815	T	0.59115	0.2170	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.53415	-0.8442	10	0.15066	T	0.55	-12.7719	8.499	0.33146	0.2404:0.1486:0.611:0.0	.	17;17	B7Z8R3;P54868	.;HMCS2_HUMAN	V	17	ENSP00000358414:A17V;ENSP00000439495:A17V	ENSP00000358414:A17V	A	-	2	0	HMGCS2	120112941	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.367000	0.07553	-0.825000	0.04290	-1.964000	0.00472	GCG		0.517	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		8	25	0	0	0	0	8	25				
FCRL4	83417	broad.mit.edu	37	1	157551393	157551393	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:157551393T>A	ENST00000271532.1	-	7	1312	c.1177A>T	c.(1177-1179)Act>Tct	p.T393S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	393					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCCCTCCAGTGGCTCCCGCG	0.572																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1177-1179)ACT>TCT		Fc receptor-like 4 precursor							53.0	50.0	51.0					1																	157551393		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551393T>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1177A>T	1.37:g.157551393T>A	ENSP00000271532:p.Thr393Ser					FCRL4_uc010phy.1_RNA	p.T393S	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			7	1313	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	393			Helical; (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1177A>T	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895259	0.33442	.	.	ENSG00000163518	ENST00000271532	T	0.20200	2.09	4.63	-9.26	0.00662	.	1.389400	0.05130	N	0.492468	T	0.03520	0.0101	L	0.49455	1.56	0.09310	N	1	B	0.23128	0.08	B	0.23275	0.045	T	0.26950	-1.0088	10	0.08381	T	0.77	.	5.5364	0.17013	0.3199:0.4295:0.0:0.2505	.	393	Q96PJ5	FCRL4_HUMAN	S	393	ENSP00000271532:T393S	ENSP00000271532:T393S	T	-	1	0	FCRL4	155818017	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.752000	0.01819	-2.218000	0.00730	-0.456000	0.05471	ACT		0.572	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		33	18	0	0	0	0	33	18				
FCRL1	115350	broad.mit.edu	37	1	157771764	157771764	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:157771764C>A	ENST00000368176.3	-	5	894	c.827G>T	c.(826-828)tGt>tTt	p.C276F	FCRL1_ENST00000358292.3_Missense_Mutation_p.C276F|FCRL1_ENST00000491942.1_Missense_Mutation_p.C276F|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	276	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTTGGCCTCACAGGAGTAGTT	0.557																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	0				skin(4)|ovary(3)	7						c.(826-828)TGT>TTT		Fc receptor-like 1 isoform 1 precursor							78.0	82.0	80.0					1																	157771764		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771764C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.827G>T	1.37:g.157771764C>A	ENSP00000357158:p.Cys276Phe					FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.C276F|FCRL1_uc001fri.2_Missense_Mutation_p.C276F|FCRL1_uc001frj.2_RNA	p.C276F	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	940	-	all_hematologic(112;0.0378)		276			Ig-like C2-type 3.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.827G>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709527	0.68730	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.58060	0.36;0.36;0.36	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.80727	0.4678	H	0.98333	4.205	0.45150	D	0.998166	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.86797	0.1989	9	.	.	.	.	14.2641	0.66104	0.0:1.0:0.0:0.0	.	276;276;276	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	F	276	ENSP00000351039:C276F;ENSP00000357158:C276F;ENSP00000418130:C276F	.	C	-	2	0	FCRL1	156038388	0.996000	0.38824	0.946000	0.38457	0.991000	0.79684	3.509000	0.53386	2.820000	0.97059	0.650000	0.86243	TGT		0.557	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		55	63	1	0	1.96e-22	3.33e-22	55	63				
CD5L	922	broad.mit.edu	37	1	157803236	157803236	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:157803236T>C	ENST00000368174.4	-	5	881	c.785A>G	c.(784-786)aAg>aGg	p.K262R	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	262	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATACGCCCTTGTGCAGCAC	0.572																																						uc001frk.3		NA																	0				ovary(1)	1						c.(784-786)AAG>AGG		CD5 molecule-like precursor							127.0	130.0	129.0					1																	157803236		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803236T>C	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.785A>G	1.37:g.157803236T>C	ENSP00000357156:p.Lys262Arg						p.K262R	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	928	-	all_hematologic(112;0.0378)		262			SRCR 3.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.785A>G	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.391294	0.42410	.	.	ENSG00000073754	ENST00000368174	T	0.28069	1.63	4.88	2.57	0.30868	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.386682	0.26492	N	0.024080	T	0.06962	0.0177	N	0.20401	0.57	0.21579	N	0.999637	B	0.25772	0.134	B	0.32980	0.156	T	0.40289	-0.9571	10	0.21014	T	0.42	.	7.4684	0.27334	0.0:0.1811:0.0:0.8189	.	262	O43866	CD5L_HUMAN	R	262	ENSP00000357156:K262R	ENSP00000357156:K262R	K	-	2	0	CD5L	156069860	0.000000	0.05858	0.973000	0.42090	0.693000	0.40251	0.400000	0.20932	0.357000	0.24183	0.533000	0.62120	AAG		0.572	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		89	91	0	0	0	0	89	91				
CD1C	911	broad.mit.edu	37	1	158263029	158263029	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:158263029C>A	ENST00000368170.3	+	5	1196	c.917C>A	c.(916-918)gCc>gAc	p.A306D		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	306					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AATTGGATTGCCTTGGTAGTG	0.398																																						uc001fru.2		NA																	0				ovary(2)|skin(1)|pancreas(1)	4						c.(916-918)GCC>GAC		CD1C antigen precursor							479.0	443.0	456.0					1																	158263029		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158263029C>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.917C>A	1.37:g.158263029C>A	ENSP00000357152:p.Ala306Asp					CD1C_uc001frv.2_Intron	p.A306D	NM_001765	NP_001756	P29017	CD1C_HUMAN			5	1209	+	all_hematologic(112;0.0378)		306			Helical; (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.917C>A	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281853	0.23392	.	.	ENSG00000158481	ENST00000368170;ENST00000454192	T	0.01209	5.17	3.22	-6.38	0.01957	MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00468	0.0015	L	0.48642	1.525	0.09310	N	1	B	0.34103	0.437	B	0.33846	0.171	T	0.24190	-1.0167	9	0.42905	T	0.14	.	10.3452	0.43901	0.0:0.6631:0.0:0.3369	.	306	P29017	CD1C_HUMAN	D	306;109	ENSP00000357152:A306D	ENSP00000357152:A306D	A	+	2	0	CD1C	156529653	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.122000	0.01321	-1.217000	0.02604	0.558000	0.71614	GCC		0.398	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		60	197	1	0	4.66e-34	8.1e-34	60	197				
OR10T2	128360	broad.mit.edu	37	1	158368630	158368630	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:158368630C>G	ENST00000334438.1	-	1	626	c.627G>C	c.(625-627)atG>atC	p.M209I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GAAAAGGCACCATAATTACCA	0.458																																						uc010pih.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(625-627)ATG>ATC		olfactory receptor, family 10, subfamily T,							57.0	58.0	57.0					1																	158368630		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368630C>G	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.627G>C	1.37:g.158368630C>G	ENSP00000334115:p.Met209Ile						p.M209I	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	627	-	all_hematologic(112;0.0378)		209			Helical; Name=5; (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.627G>C	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	C	7.036	0.561526	0.13498	.	.	ENSG00000186306	ENST00000334438	T	0.34275	1.37	4.57	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000099	T	0.06508	0.0167	N	0.16098	0.37	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.20273	-1.0280	10	0.33141	T	0.24	.	3.6126	0.08066	0.1685:0.5761:0.1634:0.0921	.	209	Q8NGX3	O10T2_HUMAN	I	209	ENSP00000334115:M209I	ENSP00000334115:M209I	M	-	3	0	OR10T2	156635254	0.007000	0.16637	0.282000	0.24776	0.788000	0.44548	0.040000	0.13905	1.147000	0.42369	-0.126000	0.14955	ATG		0.458	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		9	54	0	0	0	0	9	54				
SPTA1	6708	broad.mit.edu	37	1	158607983	158607983	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:158607983C>T	ENST00000368147.4	-	36	5209	c.5029G>A	c.(5029-5031)Ggg>Agg	p.G1677R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1677					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G1677R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGAAAGTCCCGCTGGAGAGC	0.413																																						uc001fst.1		NA																	1	Substitution - Missense(1)		NS(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5029-5031)GGG>AGG		spectrin, alpha, erythrocytic 1							81.0	76.0	77.0					1																	158607983		1881	4100	5981	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158607983C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5029G>A	1.37:g.158607983C>T	ENSP00000357129:p.Gly1677Arg						p.G1677R	NM_003126	NP_003117	P02549	SPTA1_HUMAN			36	5228	-	all_hematologic(112;0.0378)		1677			Spectrin 16.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5029G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274148	0.59649	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54675	0.56;0.56	5.36	5.36	0.76844	.	0.000000	0.32753	N	0.005686	T	0.55593	0.1930	M	0.72894	2.215	0.40675	D	0.982258	D	0.67145	0.996	D	0.65443	0.935	T	0.55774	-0.8088	10	0.27082	T	0.32	.	7.977	0.30161	0.0:0.8368:0.0:0.1632	.	1677	P02549	SPTA1_HUMAN	R	1677	ENSP00000357130:G1677R;ENSP00000357129:G1677R	ENSP00000357129:G1677R	G	-	1	0	SPTA1	156874607	1.000000	0.71417	0.785000	0.31869	0.566000	0.35808	4.370000	0.59517	2.789000	0.95967	0.591000	0.81541	GGG		0.413	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		22	45	0	0	0	0	22	45				
FCER1A	2205	broad.mit.edu	37	1	159277544	159277544	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:159277544G>T	ENST00000368115.1	+	6	695	c.596G>T	c.(595-597)cGt>cTt	p.R199L	FCER1A_ENST00000368114.1_Missense_Mutation_p.R166L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	199					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAGCTCCGCGTGAGAAGTAC	0.413																																						uc001ftq.2		NA																	0				lung(2)|skin(2)|prostate(1)	5						c.(595-597)CGT>CTT		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						116.0	104.0	108.0					1																	159277544		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159277544G>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.596G>T	1.37:g.159277544G>T	ENSP00000357097:p.Arg199Leu						p.R199L	NM_002001	NP_001992	P12319	FCERA_HUMAN			6	695	+	all_hematologic(112;0.0429)		199			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368115.1	37	c.596G>T	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	8.943	0.966204	0.18659	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02015	4.83;4.5	5.37	-8.56	0.00904	.	9.584880	0.00166	N	0.000000	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46119	-0.9214	10	0.39692	T	0.17	.	0.8386	0.01145	0.2503:0.329:0.2067:0.214	.	199	P12319	FCERA_HUMAN	L	199;166	ENSP00000357097:R199L;ENSP00000357096:R166L	ENSP00000357096:R166L	R	+	2	0	FCER1A	157544168	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.697000	0.05098	-1.271000	0.02430	-2.604000	0.00161	CGT		0.413	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		51	49	1	0	1.54e-34	2.69e-34	51	49				
RXRG	6258	broad.mit.edu	37	1	165398110	165398110	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:165398110G>T	ENST00000359842.5	-	2	445	c.143C>A	c.(142-144)aCc>aAc	p.T48N		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	48	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	ACTCACTGGGGTATCTGTGTA	0.612																																						uc001gda.2		NA																	0					0						c.(142-144)ACC>AAC		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						64.0	59.0	61.0					1																	165398110		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165398110G>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.143C>A	1.37:g.165398110G>T	ENSP00000352900:p.Thr48Asn						p.T48N	NM_006917	NP_008848	P48443	RXRG_HUMAN			2	443	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		48			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.143C>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852824	0.32699	.	.	ENSG00000143171	ENST00000359842	D	0.92446	-3.04	4.71	3.78	0.43462	.	0.125973	0.36555	N	0.002540	T	0.65831	0.2729	N	0.02802	-0.49	0.38499	D	0.948187	B	0.06786	0.001	B	0.06405	0.002	T	0.54289	-0.8316	9	0.20519	T	0.43	.	11.0689	0.47991	0.0:0.0:0.6634:0.3366	.	48	P48443	RXRG_HUMAN	N	48	ENSP00000352900:T48N	ENSP00000352900:T48N	T	-	2	0	RXRG	163664734	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.940000	0.56599	1.175000	0.42826	0.561000	0.74099	ACC		0.612	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		8	51	1	0	1.13e-05	1.58e-05	8	51				
SFT2D2	375035	broad.mit.edu	37	1	168200757	168200757	+	Silent	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:168200757T>C	ENST00000271375.4	+	2	141	c.69T>C	c.(67-69)gtT>gtC	p.V23V	SFT2D2_ENST00000367825.3_Silent_p.V23V|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Silent_p.V23V	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					TTTAGGTTGTTGAGGCATCTT	0.348																																						uc001gfi.3		NA																	0				skin(1)	1						c.(67-69)GTT>GTC		SFT2 domain containing 2							176.0	170.0	172.0					1																	168200757		2203	4300	6503	SO:0001819	synonymous_variant	375035				protein transport|vesicle-mediated transport	integral to membrane		g.chr1:168200757T>C	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.69T>C	1.37:g.168200757T>C						TBX19_uc001gfj.3_Intron	p.V23V	NM_199344	NP_955376	O95562	SFT2B_HUMAN			2	132	+	all_hematologic(923;0.215)		23			Cytoplasmic (Potential).			Silent	SNP	ENST00000271375.4	37	c.69T>C	CCDS1271.1																																																																																				0.348	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344		48	52	0	0	0	0	48	52				
SELP	6403	broad.mit.edu	37	1	169586541	169586541	+	Missense_Mutation	SNP	G	G	T	rs553948727		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:169586541G>T	ENST00000263686.6	-	3	243	c.206C>A	c.(205-207)gCc>gAc	p.A69D	SELP_ENST00000367793.2_Missense_Mutation_p.A69D|SELP_ENST00000367794.2_Missense_Mutation_p.A69D|SELP_ENST00000367792.2_Missense_Mutation_p.A69D|SELP_ENST00000367788.2_Missense_Mutation_p.A69D|SELP_ENST00000367786.2_Missense_Mutation_p.A69D|SELP_ENST00000458599.2_Missense_Mutation_p.A69D|SELP_ENST00000367791.2_Missense_Mutation_p.A69D	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	69	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ATTCTGGATGGCCACTAAGTC	0.408																																						uc001ggi.3		NA																	0				ovary(2)|skin(2)	4						c.(205-207)GCC>GAC		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						172.0	159.0	163.0					1																	169586541		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586541G>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.206C>A	1.37:g.169586541G>T	ENSP00000263686:p.Ala69Asp					SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.A69D	p.A69D	NM_003005	NP_002996	P16109	LYAM3_HUMAN			3	271	-	all_hematologic(923;0.208)		69			Extracellular (Potential).|C-type lectin.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.206C>A	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965913	0.74131	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.9	5.9	0.94986	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.115199	0.38897	N	0.001522	T	0.53850	0.1822	H	0.94964	3.605	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64655	-0.6356	10	0.56958	D	0.05	-22.1104	17.7661	0.88478	0.0:0.0:1.0:0.0	.	69;69	Q6NUL9;P16109	.;LYAM3_HUMAN	D	69;69;68;69;69;69;69;69;69;69;69;69;54	ENSP00000263686:A69D;ENSP00000356767:A69D;ENSP00000356768:A69D;ENSP00000356766:A69D;ENSP00000356765:A69D;ENSP00000356762:A69D;ENSP00000356760:A69D	ENSP00000263686:A69D	A	-	2	0	SELP	167853165	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.476000	0.97823	2.793000	0.96121	0.563000	0.77884	GCC		0.408	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		55	142	1	0	6.31e-27	1.08e-26	55	142				
FMO4	2329	broad.mit.edu	37	1	171300851	171300851	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:171300851G>A	ENST00000367749.3	+	6	887	c.557G>A	c.(556-558)cGc>cAc	p.R186H	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	186					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGGCAAACGCGTCTTGGTG	0.463																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NA																	0				kidney(2)|skin(1)	3						c.(556-558)CGC>CAC		flavin containing monooxygenase 4							189.0	180.0	183.0					1																	171300851		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171300851G>A	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.557G>A	1.37:g.171300851G>A	ENSP00000356723:p.Arg186His						p.R186H	NM_002022	NP_002013	P31512	FMO4_HUMAN			6	774	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		186					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.557G>A	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865350	0.51588	.	.	ENSG00000076258	ENST00000367749	T	0.63580	-0.05	5.29	5.29	0.74685	.	0.240306	0.41938	D	0.000800	T	0.70859	0.3272	M	0.70108	2.13	0.36974	D	0.893983	D	0.69078	0.997	P	0.58266	0.836	T	0.75866	-0.3166	10	0.72032	D	0.01	-7.7571	18.5282	0.90981	0.0:0.0:1.0:0.0	.	186	P31512	FMO4_HUMAN	H	186	ENSP00000356723:R186H	ENSP00000356723:R186H	R	+	2	0	FMO4	169567475	0.440000	0.25618	0.542000	0.28115	0.015000	0.08874	3.387000	0.52501	2.463000	0.83235	0.655000	0.94253	CGC		0.463	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		25	153	0	0	0	0	25	153				
RALGPS2	55103	broad.mit.edu	37	1	178871291	178871291	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:178871291G>A	ENST00000367635.3	+	18	1913	c.1575G>A	c.(1573-1575)atG>atA	p.M525I	RALGPS2_ENST00000367634.2_Missense_Mutation_p.M499I	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	525	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GGATGGTGATGATGGCTGATG	0.388																																						uc001glz.2		NA																	0					0						c.(1573-1575)ATG>ATA		Ral GEF with PH domain and SH3 binding motif 2							227.0	199.0	208.0					1																	178871291		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178871291G>A	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1575G>A	1.37:g.178871291G>A	ENSP00000356607:p.Met525Ile					RALGPS2_uc010pnb.1_Missense_Mutation_p.M499I	p.M525I	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			18	1913	+			525			Required for stimulation of nucleotide exchange by RALA (By similarity).|PH.		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1575G>A	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495083	0.44352	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.78481	-1.18;-1.18;-1.18	5.69	5.69	0.88448	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	N	0.17474	0.49	0.80722	D	1	B;B	0.12630	0.006;0.003	B;B	0.12837	0.008;0.008	T	0.59392	-0.7463	10	0.20519	T	0.43	.	19.4161	0.94700	0.0:0.0:1.0:0.0	.	499;525	B7Z7B1;Q86X27	.;RGPS2_HUMAN	I	525;499;490;174	ENSP00000356607:M525I;ENSP00000356606:M499I;ENSP00000313613:M490I	ENSP00000313613:M490I	M	+	3	0	RALGPS2	177137914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	2.683000	0.91414	0.655000	0.94253	ATG		0.388	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		10	86	0	0	0	0	10	86				
CACNA1E	777	broad.mit.edu	37	1	181702849	181702849	+	Silent	SNP	C	C	T	rs572301954	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:181702849C>T	ENST00000367573.2	+	21	3225	c.3225C>T	c.(3223-3225)ccC>ccT	p.P1075P	CACNA1E_ENST00000358338.5_Silent_p.P1007P|CACNA1E_ENST00000367567.4_Silent_p.P682P|CACNA1E_ENST00000367570.1_Silent_p.P1075P|CACNA1E_ENST00000357570.5_Silent_p.P1026P|CACNA1E_ENST00000526775.1_Silent_p.P1056P|CACNA1E_ENST00000360108.3_Silent_p.P1056P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1075					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCGCCATCCCCGACGTGGACC	0.652													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18392	0.0		0.0	False		,,,				2504	0.0					uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3223-3225)CCC>CCT		calcium channel, voltage-dependent, R type,							38.0	44.0	42.0					1																	181702849		2172	4257	6429	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702849C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3225C>T	1.37:g.181702849C>T						CACNA1E_uc009wxs.2_Silent_p.P963P|CACNA1E_uc001gox.1_Silent_p.P301P|CACNA1E_uc009wxt.2_Silent_p.P301P	p.P1075P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			21	3390	+			1075			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.3225C>T	CCDS55664.1																																																																																				0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		12	28	0	0	0	0	12	28				
CRB1	23418	broad.mit.edu	37	1	197390857	197390857	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:197390857G>A	ENST00000367400.3	+	6	2034	c.1899G>A	c.(1897-1899)atG>atA	p.M633I	CRB1_ENST00000367399.2_Missense_Mutation_p.M521I|CRB1_ENST00000538660.1_Missense_Mutation_p.M633I|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367397.1_Missense_Mutation_p.M14I|CRB1_ENST00000544212.1_Missense_Mutation_p.M114I|CRB1_ENST00000535699.1_Missense_Mutation_p.M564I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	633	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTATAATATGCCATCCACAC	0.403																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(1897-1899)ATG>ATA		crumbs homolog 1 precursor							146.0	136.0	139.0					1																	197390857		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390857G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1899G>A	1.37:g.197390857G>A	ENSP00000356370:p.Met633Ile					CRB1_uc010poz.1_Missense_Mutation_p.M564I|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.M521I|CRB1_uc010ppb.1_Missense_Mutation_p.M633I|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.M114I|CRB1_uc001gub.1_Missense_Mutation_p.M282I	p.M633I	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	2034	+			633			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1899G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.907999	0.00508	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T;D	0.85013	-1.17;-1.17;-1.17;-1.17;-1.17;-1.93	5.85	-6.64	0.01801	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.54498	0.1862	N	0.00760	-1.21	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.55418	-0.8144	9	0.10636	T	0.68	.	10.9474	0.47308	0.2224:0.2778:0.4998:0.0	.	633;564;521;282;633	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	I	564;633;633;521;114;14;282	ENSP00000438786:M564I;ENSP00000438091:M633I;ENSP00000356370:M633I;ENSP00000356369:M521I;ENSP00000444556:M114I;ENSP00000356367:M14I	ENSP00000356367:M14I	M	+	3	0	CRB1	195657480	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.272000	0.08560	-1.624000	0.01556	-1.103000	0.02113	ATG		0.403	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		44	87	0	0	0	0	44	87				
FAM58BP	339521	broad.mit.edu	37	1	200183121	200183121	+	IGR	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:200183121C>A								NR5A2 (36569 upstream) : RP11-532L16.3 (101441 downstream)																							CTCCTTCCAGCATCCACACAA	0.612																																						uc009wzi.1		NA																	0					0						c.(430-432)CAT>AAT		family with sequence similarity 58 member B							63.0	63.0	63.0					1																	200183121		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183121C>A																													1.37:g.200183121C>A							p.H144N	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	466	+	Prostate(682;0.19)		144						Missense_Mutation	SNP		37	c.430C>A																																																																																				0	0.612									25	35	1	0	9.86e-18	1.62e-17	25	35				
ATP2B4	493	broad.mit.edu	37	1	203708793	203708793	+	Silent	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:203708793A>G	ENST00000357681.5	+	21	4552	c.3429A>G	c.(3427-3429)ccA>ccG	p.P1143P	ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000391954.2_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1179					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGAGTTGCCACGAACACCAC	0.502																																						uc001gzw.2		NA																	0				ovary(2)|skin(1)	3						c.(3427-3429)CCA>CCG		plasma membrane calcium ATPase 4 isoform 4b							123.0	111.0	115.0					1																	203708793		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203708793A>G	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3429A>G	1.37:g.203708793A>G						ATP2B4_uc001gzv.2_3'UTR|ATP2B4_uc001gzx.2_Silent_p.P210P|ATP2B4_uc009xar.2_3'UTR	p.P1143P	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		21	4313	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1179			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.3429A>G	CCDS1440.1																																																																																				0.502	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		23	51	0	0	0	0	23	51				
KCNH1	3756	broad.mit.edu	37	1	211263942	211263942	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:211263942G>A	ENST00000271751.4	-	4	428	c.401C>T	c.(400-402)aCa>aTa	p.T134I	KCNH1_ENST00000367007.4_Missense_Mutation_p.T134I			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	134	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTTGAAAGCTGTTATGTCACT	0.358																																						uc001hib.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(400-402)ACA>ATA		potassium voltage-gated channel, subfamily H,							106.0	102.0	103.0					1																	211263942		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211263942G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.401C>T	1.37:g.211263942G>A	ENSP00000271751:p.Thr134Ile					KCNH1_uc001hic.2_Missense_Mutation_p.T134I	p.T134I	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	4	571	-			134			PAC.|Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.401C>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617876	0.87359	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99900	-7.63;-7.63	5.22	5.22	0.72569	PAS-associated, C-terminal (1);PAS (1);	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96136	0.9096	10	0.66056	D	0.02	.	17.7921	0.88555	0.0:0.0:1.0:0.0	.	134;134	Q14CL3;O95259	.;KCNH1_HUMAN	I	134	ENSP00000271751:T134I;ENSP00000355974:T134I	ENSP00000271751:T134I	T	-	2	0	KCNH1	209330565	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.445000	0.97587	2.442000	0.82660	0.655000	0.94253	ACA		0.358	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		18	24	0	0	0	0	18	24				
SIPA1L2	57568	broad.mit.edu	37	1	232577560	232577560	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:232577560G>A	ENST00000366630.1	-	12	3850	c.3492C>T	c.(3490-3492)gaC>gaT	p.D1164D	SIPA1L2_ENST00000262861.4_Silent_p.D1164D|SIPA1L2_ENST00000308942.4_Silent_p.D238D			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1164					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCTGGCTCCGTCACATTCCA	0.567																																						uc001hvg.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(3490-3492)GAC>GAT		signal-induced proliferation-associated 1 like							65.0	71.0	69.0					1																	232577560		2017	4177	6194	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232577560G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3492C>T	1.37:g.232577560G>A						SIPA1L2_uc001hvf.2_Silent_p.D238D	p.D1164D	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			11	3650	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1164					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.3492C>T	CCDS41474.1																																																																																				0.567	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	29	0	0	0	0	5	29				
CHRM3	1131	broad.mit.edu	37	1	240072502	240072502	+	Missense_Mutation	SNP	G	G	A	rs532452227	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:240072502G>A	ENST00000255380.4	+	5	2530	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	584					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTTCACAAGCGCGCACCCGAG	0.522													G|||	4	0.000798722	0.0	0.0043	5008	,	,		16486	0.0		0.0	False		,,,				2504	0.001					uc001hyp.2		NA																	0				ovary(4)|skin(1)	5						c.(1750-1752)CGC>CAC		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						40.0	41.0	40.0					1																	240072502		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072502G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1751G>A	1.37:g.240072502G>A	ENSP00000255380:p.Arg584His						p.R584H	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2530	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	584			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1751G>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969010	0.34754	.	.	ENSG00000133019	ENST00000255380	T	0.60797	0.16	5.52	5.52	0.82312	.	0.341793	0.26522	N	0.023911	T	0.43255	0.1239	N	0.19112	0.55	0.37185	D	0.90366	B	0.14012	0.009	B	0.10450	0.005	T	0.45338	-0.9268	10	0.49607	T	0.09	-10.7233	12.733	0.57208	0.0751:0.0:0.9248:0.0	.	584	P20309	ACM3_HUMAN	H	584	ENSP00000255380:R584H	ENSP00000255380:R584H	R	+	2	0	CHRM3	238139125	1.000000	0.71417	0.947000	0.38551	0.650000	0.38633	5.190000	0.65104	2.597000	0.87782	0.609000	0.83330	CGC		0.522	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		9	40	0	0	0	0	9	40				
HNRNPU	3192	broad.mit.edu	37	1	245026026	245026026	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:245026026C>G	ENST00000283179.9	-	2	861	c.698G>C	c.(697-699)gGc>gCc	p.G233A	RP11-11N7.4_ENST00000610145.1_lincRNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.G214A			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	233					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTCTGTTTTGCCGTCCCCTAA	0.443																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1		NA																	0					0						c.(697-699)GGC>GCC		heterogeneous nuclear ribonucleoprotein U							183.0	173.0	177.0					1																	245026026		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245026026C>G	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.698G>C	1.37:g.245026026C>G	ENSP00000283179:p.Gly233Ala					HNRNPU_uc001iax.1_5'Flank|HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Missense_Mutation_p.G214A|HNRNPU_uc001ibb.1_5'UTR	p.G233A	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		2	916	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		233					O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.698G>C	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725814	0.30593	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	T;T	0.41400	1.05;1.0	4.47	4.47	0.54385	.	0.161585	0.56097	D	0.000025	T	0.24122	0.0584	N	0.17474	0.49	0.45378	D	0.998363	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.06881	-1.0802	10	0.09084	T	0.74	-6.2459	12.2801	0.54759	0.0:0.8294:0.1706:0.0	.	214;233	Q00839-2;Q00839	.;HNRPU_HUMAN	A	214;233;158;10	ENSP00000393151:G214A;ENSP00000283179:G233A	ENSP00000283179:G233A	G	-	2	0	HNRNPU	243092649	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.542000	0.53625	2.319000	0.78375	0.650000	0.86243	GGC		0.443	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		47	77	0	0	0	0	47	77				
OR2W5	441932	broad.mit.edu	37	1	247655122	247655122	+	RNA	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:247655122C>A	ENST00000522351.1	+	0	753							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							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(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATGAAGTCAGCAGCAGGGCGA	0.577																																						uc001icz.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(691-693)AGC>AGA		olfactory receptor, family 2, subfamily W,							130.0	120.0	123.0					1																	247655122		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655122C>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655122C>A							p.S231R	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	693	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	231					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.693C>A																																																																																					0.577	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		27	61	1	0	1.43e-11	2.2e-11	27	61				
OR2M2	391194	broad.mit.edu	37	1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:248343988G>A	ENST00000359682.2	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468																																						uc010pzf.1		NA																	2	Substitution - Missense(2)		prostate(1)|kidney(1)	ovary(3)|skin(1)	4						c.(700-702)CGT>CAT		olfactory receptor, family 2, subfamily M,							175.0	154.0	161.0					1																	248343988		2203	4299	6502	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343988G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.701G>A	1.37:g.248343988G>A	ENSP00000352710:p.Arg234His						p.R234H	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	701	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		234			Cytoplasmic (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.701G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	6.369	0.436111	0.12104	.	.	ENSG00000198601	ENST00000359682	T	0.00333	8.07	2.03	-0.0998	0.13623	GPCR, rhodopsin-like superfamily (1);	1.102670	0.07291	N	0.872436	T	0.00412	0.0013	M	0.83603	2.65	0.09310	N	1	B	0.21606	0.058	B	0.21708	0.036	T	0.38478	-0.9659	10	0.72032	D	0.01	.	10.5714	0.45202	0.1236:0.0:0.8764:0.0	.	234	Q96R28	OR2M2_HUMAN	H	234	ENSP00000352710:R234H	ENSP00000352710:R234H	R	+	2	0	OR2M2	246410611	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.047000	0.30367	-0.169000	0.10834	-1.847000	0.00572	CGT		0.468	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		46	49	0	0	0	0	46	49				
PRKCQ	5588	broad.mit.edu	37	10	6521108	6521108	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:6521108T>A	ENST00000263125.5	-	12	1298	c.1199A>T	c.(1198-1200)aAg>aTg	p.K400M	PRKCQ_ENST00000539722.1_Missense_Mutation_p.K275M|PRKCQ_ENST00000397176.2_Missense_Mutation_p.K400M	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ATTGGTTTTCTTGAATTCTGC	0.388																																					Ovarian(50;572 1126 10530 25349 30594)	uc001ijj.1		NA																	0				ovary(3)|lung(2)|large_intestine(1)	6						c.(1198-1200)AAG>ATG		protein kinase C, theta							154.0	139.0	144.0					10																	6521108		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6521108T>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1199A>T	10.37:g.6521108T>A	ENSP00000263125:p.Lys400Met					PRKCQ_uc009xim.1_Missense_Mutation_p.K400M|PRKCQ_uc001iji.1_Missense_Mutation_p.K433M|PRKCQ_uc009xin.1_Missense_Mutation_p.K364M|PRKCQ_uc010qax.1_Missense_Mutation_p.K275M	p.K400M	NM_006257	NP_006248	Q04759	KPCT_HUMAN			12	1274	-			400			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1199A>T	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.24|16.24	3.066043|3.066043	0.55539|0.55539	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.68025|.	-0.3;-0.3;-0.3|.	4.76|4.76	3.62|3.62	0.41486|0.41486	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.045544|.	0.85682|.	D|.	0.000000|.	T|.	0.73281|.	0.3567|.	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999999|0.999999	D;P;P;B|.	0.55605|.	0.972;0.783;0.892;0.3|.	P;P;P;B|.	0.54664|.	0.758;0.701;0.7;0.251|.	T|.	0.73072|.	-0.4098|.	10|.	0.87932|.	D|.	0|.	.|.	10.1519|10.1519	0.42799|0.42799	0.0:0.0804:0.0:0.9196|0.0:0.0804:0.0:0.9196	.|.	275;172;400;400|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	M|X	400;400;275|173	ENSP00000263125:K400M;ENSP00000380361:K400M;ENSP00000441752:K275M|.	ENSP00000263125:K400M|.	K|R	-|-	2|1	0|2	PRKCQ|PRKCQ	6561114|6561114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.670000|0.670000	0.39368|0.39368	6.084000|6.084000	0.71335|0.71335	0.782000|0.782000	0.33613|0.33613	-0.353000|-0.353000	0.07706|0.07706	AAG|AGA		0.388	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		18	34	0	0	0	0	18	34				
SFMBT2	57713	broad.mit.edu	37	10	7239525	7239525	+	Silent	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:7239525C>G	ENST00000361972.4	-	15	1773	c.1683G>C	c.(1681-1683)gtG>gtC	p.V561V	SFMBT2_ENST00000397167.1_Silent_p.V561V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	561					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TAAGAACCAGCACGCATTTGC	0.483																																						uc009xio.1		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1681-1683)GTG>GTC		Scm-like with four mbt domains 2							111.0	106.0	108.0					10																	7239525		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7239525C>G	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1683G>C	10.37:g.7239525C>G						SFMBT2_uc001ijn.1_Silent_p.V561V|SFMBT2_uc010qay.1_Intron	p.V561V	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			15	1774	-			561					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1683G>C	CCDS31138.1																																																																																				0.483	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		31	58	0	0	0	0	31	58				
MCM10	55388	broad.mit.edu	37	10	13222601	13222601	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:13222601G>T	ENST00000484800.2	+	7	1030	c.927G>T	c.(925-927)gtG>gtT	p.V309V	MCM10_ENST00000378694.1_Silent_p.V308V|MCM10_ENST00000378714.3_Silent_p.V308V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	309	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CACAGAGTGTGAATAGTGTAA	0.408																																						uc001ima.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(925-927)GTG>GTT		minichromosome maintenance complex component 10							221.0	220.0	220.0					10																	13222601		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13222601G>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.927G>T	10.37:g.13222601G>T						MCM10_uc001imb.2_Silent_p.V308V|MCM10_uc001imc.2_Silent_p.V308V	p.V309V	NM_182751	NP_877428	Q7L590	MCM10_HUMAN			7	1028	+			309					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.927G>T	CCDS7096.1																																																																																				0.408	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		35	77	1	0	8.74e-17	1.42e-16	35	77				
TRDMT1	1787	broad.mit.edu	37	10	17199734	17199734	+	Missense_Mutation	SNP	G	G	T	rs200204830		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:17199734G>T	ENST00000377799.3	-	8	640	c.593C>A	c.(592-594)gCa>gAa	p.A198E	TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.A152E|TRDMT1_ENST00000457442.2_Missense_Mutation_p.A117E|TRDMT1_ENST00000488990.1_Missense_Mutation_p.A75E|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.A174E	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	198	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TACATCCATTGCATATTTTTG	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		19024	0.0		0.001	False		,,,				2504	0.0					uc001iop.2		NA																	0				ovary(1)	1						c.(592-594)GCA>GAA		tRNA aspartic acid methyltransferase 1 isoform							85.0	78.0	81.0					10																	17199734		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17199734G>T	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.593C>A	10.37:g.17199734G>T	ENSP00000367030:p.Ala198Glu					TRDMT1_uc001ioq.2_Missense_Mutation_p.A174E|TRDMT1_uc001ior.2_Missense_Mutation_p.A152E|TRDMT1_uc001ios.2_Missense_Mutation_p.A127E|TRDMT1_uc009xjt.2_Missense_Mutation_p.A117E|TRDMT1_uc010qcc.1_Missense_Mutation_p.A127E|TRDMT1_uc010qcd.1_Missense_Mutation_p.A75E	p.A198E	NM_004412	NP_004403	O14717	TRDMT_HUMAN			8	641	-			198					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	c.593C>A	CCDS7114.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	9.566|9.566	1.119728|1.119728	0.20877|0.20877	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000488990|ENST00000313936	D;D;D;D|.	0.83673|.	-1.75;-1.75;-1.75;-1.75|.	5.41|5.41	4.5|4.5	0.54988|0.54988	.|.	0.974876|.	0.08475|.	N|.	0.940461|.	T|.	0.35885|.	0.0947|.	L|L	0.38838|0.38838	1.175|1.175	0.20074|0.20074	N|N	0.999933|0.999933	D;B;B;B;B;B|.	0.56521|.	0.976;0.003;0.013;0.002;0.001;0.002|.	P;B;B;B;B;B|.	0.44860|.	0.462;0.011;0.013;0.002;0.004;0.006|.	T|.	0.21348|.	-1.0248|.	10|.	0.15952|.	T|.	0.53|.	-5.1242|-5.1242	7.4737|7.4737	0.27363|0.27363	0.1063:0.0:0.7299:0.1637|0.1063:0.0:0.7299:0.1637	.|.	75;127;117;152;174;198|.	B7Z8H2;B7Z1Y7;E7EMI8;O14717-3;O14717-2;O14717|.	.;.;.;.;.;TRDMT_HUMAN|.	E|X	198;174;152;117;75|131	ENSP00000367030:A198E;ENSP00000409354:A174E;ENSP00000324328:A152E;ENSP00000412256:A117E|.	ENSP00000324328:A152E|.	A|C	-|-	2|3	0|2	TRDMT1|TRDMT1	17239740|17239740	0.008000|0.008000	0.16893|0.16893	0.017000|0.017000	0.16124|0.16124	0.058000|0.058000	0.15608|0.15608	0.978000|0.978000	0.29488|0.29488	1.418000|1.418000	0.47098|0.47098	0.650000|0.650000	0.86243|0.86243	GCA|TGC		0.318	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		14	18	1	0	4.38e-07	6.29e-07	14	18				
CACNB2	783	broad.mit.edu	37	10	18807304	18807304	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:18807304C>A	ENST00000324631.7	+	8	904	c.844C>A	c.(844-846)Cga>Aga	p.R282R	CACNB2_ENST00000282343.8_Silent_p.R254R|CACNB2_ENST00000377329.4_Silent_p.R228R|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Silent_p.R189R|CACNB2_ENST00000352115.6_Silent_p.R258R|CACNB2_ENST00000377331.2_Silent_p.R230R|CACNB2_ENST00000377315.4_Silent_p.R234R|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000396576.2_Silent_p.R227R	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	282					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTTCCATGCGACCAGTGGT	0.502																																						uc001ipr.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(844-846)CGA>AGA		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						188.0	159.0	169.0					10																	18807304		2203	4300	6503	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18807304C>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.844C>A	10.37:g.18807304C>A						CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Silent_p.R258R|CACNB2_uc001ipt.2_Silent_p.R244R|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Silent_p.R254R|CACNB2_uc001ipv.2_Silent_p.R230R|CACNB2_uc009xka.1_Silent_p.R216R|CACNB2_uc001ipw.2_Silent_p.R189R|CACNB2_uc001ipx.2_Silent_p.R227R|CACNB2_uc009xkb.1_3'UTR|CACNB2_uc010qcm.1_Silent_p.R228R|CACNB2_uc001ipz.2_Silent_p.R204R|CACNB2_uc001ipy.2_Silent_p.R228R|CACNB2_uc010qcn.1_Silent_p.R196R|CACNB2_uc010qco.1_Silent_p.R196R|CACNB2_uc001iqa.2_Silent_p.R234R|NSUN6_uc001iqb.2_Intron	p.R282R	NM_201596	NP_963890	Q08289	CACB2_HUMAN			8	904	+			282					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.844C>A	CCDS7125.1																																																																																				0.502	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		44	91	1	0	3.77e-18	6.2e-18	44	91				
ANKRD30A	91074	broad.mit.edu	37	10	37430667	37430667	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:37430667C>A	ENST00000602533.1	+	7	773	c.674C>A	c.(673-675)cCt>cAt	p.P225H	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P225H|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P225H			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	281					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCAGGAACACCTGATGAGGCT	0.468																																						uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(673-675)CCT>CAT		ankyrin repeat domain 30A							29.0	31.0	30.0					10																	37430667		1883	4104	5987	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430667C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.674C>A	10.37:g.37430667C>A	ENSP00000473551:p.Pro225His						p.P225H	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	773	+			281					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.674C>A		.	.	.	.	.	.	.	.	.	.	.	9.621	1.133860	0.21123	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06294	3.32;3.32	0.566	-1.13	0.09775	.	.	.	.	.	T	0.12475	0.0303	L	0.43152	1.355	0.09310	N	1	D	0.69078	0.997	D	0.64410	0.925	T	0.17410	-1.0370	8	0.87932	D	0	.	.	.	.	.	281	Q9BXX3	AN30A_HUMAN	H	225	ENSP00000354432:P225H;ENSP00000363792:P225H	ENSP00000354432:P225H	P	+	2	0	ANKRD30A	37470673	0.127000	0.22367	0.027000	0.17364	0.116000	0.19942	-0.778000	0.04664	-0.260000	0.09418	-1.012000	0.02466	CCT		0.468	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		10	29	1	0	9.7e-10	1.45e-09	10	29				
OR13A1	79290	broad.mit.edu	37	10	45799384	45799384	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:45799384C>A	ENST00000553795.1	-	4	795	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S	OR13A1_ENST00000374401.2_Missense_Mutation_p.A163S|OR13A1_ENST00000536058.1_Missense_Mutation_p.A163S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	163						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(5)|lung(9)|skin(2)|urinary_tract(1)	19						ACGGCTGTGGCCAGCCCGCTG	0.597																																						uc001jcc.1		NA																	0					0						c.(487-489)GCC>TCC		olfactory receptor, family 13, subfamily A,							33.0	34.0	34.0					10																	45799384		2197	4280	6477	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799384C>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.487G>T	10.37:g.45799384C>A	ENSP00000451950:p.Ala163Ser					OR13A1_uc001jcd.1_Missense_Mutation_p.A159S	p.A163S	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	796	-			163			Helical; Name=4; (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.487G>T	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	c	13.40	2.225912	0.39300	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.37058	1.22;1.22;1.22	5.63	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	0.142348	0.32343	N	0.006229	T	0.47021	0.1423	M	0.68593	2.085	0.29003	N	0.887363	P	0.39352	0.669	P	0.50162	0.633	T	0.47497	-0.9113	10	0.87932	D	0	-14.7321	9.9932	0.41883	0.0:0.8018:0.0:0.1982	.	163	Q8NGR1	O13A1_HUMAN	S	163	ENSP00000451950:A163S;ENSP00000438657:A163S;ENSP00000363522:A163S	ENSP00000311379:A163S	A	-	1	0	OR13A1	45119390	0.005000	0.15991	0.011000	0.14972	0.018000	0.09664	1.664000	0.37439	0.326000	0.23384	0.650000	0.86243	GCC		0.597	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		18	40	1	0	1.87e-06	2.65e-06	18	40				
FAM21A	387680	broad.mit.edu	37	10	47915915	47915915	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:47915915C>A	ENST00000358474.5	+	15	1322	c.1322C>A	c.(1321-1323)tCa>tAa	p.S441*		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		441					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AAGCCCTCATCAGAAACAAAG	0.403																																						uc009xni.2		NA																	0				ovary(1)	1						c.(1321-1323)TCA>TAA		hypothetical protein LOC55747							18.0	28.0	25.0					10																	47915915		1680	3929	5609	SO:0001587	stop_gained	55747				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:47915915C>A																												ENST00000358474.5:c.1322C>A	10.37:g.47915915C>A	ENSP00000351259:p.Ser441*					FAM21B_uc001jep.3_Nonsense_Mutation_p.S336*	p.S441*	NM_018232	NP_060702	Q5SNT6	FA21B_HUMAN			15	1322	+			441						Nonsense_Mutation	SNP	ENST00000358474.5	37	c.1322C>A	CCDS44379.1	.	.	.	.	.	.	.	.	.	.	.	33	5.288819	0.95517	.	.	ENSG00000152726	ENST00000358474;ENST00000535219;ENST00000355876	.	.	.	2.61	2.61	0.31194	.	0.842268	0.10867	N	0.625378	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0919	11.034	0.47789	0.0:1.0:0.0:0.0	.	.	.	.	X	441;278;432	.	ENSP00000348138:S432X	S	+	2	0	FAM21B	47435921	0.788000	0.28762	0.814000	0.32528	0.833000	0.47200	1.662000	0.37418	1.490000	0.48466	0.377000	0.23210	TCA		0.403	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			11	130	1	0	7.93e-07	1.13e-06	11	130				
SLC18A3	6572	broad.mit.edu	37	10	50819675	50819675	+	Missense_Mutation	SNP	G	G	A	rs149097990		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:50819675G>A	ENST00000374115.3	+	1	1329	c.889G>A	c.(889-891)Gcg>Acg	p.A297T	CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	297					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GGTGGCCGGCGCGCTCACCAC	0.642																																						uc001jhw.2		NA																	0				ovary(2)	2						c.(889-891)GCG>ACG		vesicular acetylcholine transporter		G	THR/ALA,	0,4406		0,0,2203	64.0	61.0	62.0		889,	5.2	1.0	10	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	CHAT,SLC18A3	NM_003055.2,NM_020984.3	58,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	297/533,	50819675	1,13005	2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819675G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.889G>A	10.37:g.50819675G>A	ENSP00000363229:p.Ala297Thr					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.A297T	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1329	+			297			Helical; (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.889G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575430	0.86645	0.0	1.16E-4	ENSG00000187714	ENST00000374115	T	0.59224	0.28	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000002	T	0.81950	0.4931	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86241	0.1643	10	0.87932	D	0	-2.5362	18.8486	0.92218	0.0:0.0:1.0:0.0	.	297	Q16572	VACHT_HUMAN	T	297	ENSP00000363229:A297T	ENSP00000363229:A297T	A	+	1	0	SLC18A3	50489681	1.000000	0.71417	0.987000	0.45799	0.608000	0.37181	9.824000	0.99380	2.469000	0.83416	0.561000	0.74099	GCG		0.642	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		25	44	0	0	0	0	25	44				
A1CF	29974	broad.mit.edu	37	10	52619639	52619639	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:52619639C>T	ENST00000373993.1	-	1	106	c.62G>A	c.(61-63)cGc>cAc	p.R21H	A1CF_ENST00000373997.3_Missense_Mutation_p.R21H|A1CF_ENST00000282641.2_Missense_Mutation_p.R21H|A1CF_ENST00000374001.2_Missense_Mutation_p.R21H|A1CF_ENST00000395495.1_Missense_Mutation_p.R21H|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000395489.2_5'UTR			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	21					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GACCAGTGCGCGGAGGGCTGC	0.478																																						uc001jjj.2		NA																	0				central_nervous_system(1)	1						c.(61-63)CGC>CAC		apobec-1 complementation factor isoform 2							101.0	90.0	93.0					10																	52619639		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52619639C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.62G>A	10.37:g.52619639C>T	ENSP00000363105:p.Arg21His					A1CF_uc010qhn.1_5'UTR|A1CF_uc001jji.2_Missense_Mutation_p.R21H|A1CF_uc001jjh.2_5'UTR|A1CF_uc010qho.1_5'UTR|A1CF_uc009xov.2_Missense_Mutation_p.R21H|A1CF_uc001jjk.1_Missense_Mutation_p.R21H	p.R21H	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			3	250	-			21					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.62G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493371	0.64186	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000282641;ENST00000395495;ENST00000414883	T;T;T;T;T;T	0.20332	2.81;2.81;2.81;2.81;2.73;2.08	5.83	5.83	0.93111	.	0.802956	0.11615	N	0.546316	T	0.25568	0.0622	L	0.49350	1.555	0.80722	D	1	B;B	0.13145	0.002;0.007	B;B	0.12156	0.001;0.007	T	0.03249	-1.1056	10	0.32370	T	0.25	.	17.6277	0.88097	0.0:1.0:0.0:0.0	.	21;21	Q9NQ94;Q9NQ94-2	A1CF_HUMAN;.	H	21	ENSP00000363113:R21H;ENSP00000363105:R21H;ENSP00000363109:R21H;ENSP00000282641:R21H;ENSP00000378873:R21H;ENSP00000397953:R21H	ENSP00000282641:R21H	R	-	2	0	A1CF	52289645	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.263000	0.65507	2.770000	0.95276	0.655000	0.94253	CGC		0.478	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		21	34	0	0	0	0	21	34				
TMEM26	219623	broad.mit.edu	37	10	63212740	63212740	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:63212740G>T	ENST00000399298.3	-	1	468	c.100C>A	c.(100-102)Ccg>Acg	p.P34T	RP11-809M12.1_ENST00000389640.4_RNA|TMEM26_ENST00000399293.1_Missense_Mutation_p.P34T	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	34						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CAGTACCGCGGCTCCTTCTTC	0.607																																						uc001jlo.2		NA																	0					0						c.(100-102)CCG>ACG		transmembrane protein 26							69.0	82.0	78.0					10																	63212740		2049	4194	6243	SO:0001583	missense	219623					integral to membrane		g.chr10:63212740G>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.100C>A	10.37:g.63212740G>T	ENSP00000382237:p.Pro34Thr					TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA|uc001jlr.2_RNA	p.P34T	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			1	469	-	Prostate(12;0.0112)		34					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.100C>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	8.903	0.956809	0.18507	.	.	ENSG00000196932	ENST00000399298;ENST00000399293	.	.	.	5.14	3.28	0.37604	.	0.519651	0.20821	N	0.085061	T	0.45236	0.1332	L	0.47716	1.5	0.19945	N	0.99994	D	0.54601	0.967	P	0.55713	0.782	T	0.27226	-1.0080	9	0.21540	T	0.41	-22.277	9.0371	0.36293	0.1379:0.0:0.7399:0.1222	.	34	Q6ZUK4	TMM26_HUMAN	T	34	.	ENSP00000382232:P34T	P	-	1	0	TMEM26	62882746	1.000000	0.71417	0.754000	0.31244	0.191000	0.23601	1.973000	0.40550	0.349000	0.23975	-0.797000	0.03246	CCG		0.607	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		32	64	1	0	2e-19	3.34e-19	32	64				
MYPN	84665	broad.mit.edu	37	10	69935118	69935118	+	Missense_Mutation	SNP	C	C	T	rs533835950		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:69935118C>T	ENST00000358913.5	+	12	3091	c.2603C>T	c.(2602-2604)cCt>cTt	p.P868L	MYPN_ENST00000354393.2_Missense_Mutation_p.P593L|MYPN_ENST00000540630.1_Missense_Mutation_p.P868L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	868					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ACAAAGTCTCCTCAACCAGTG	0.433																																						uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(2602-2604)CCT>CTT		myopalladin							93.0	88.0	89.0					10																	69935118		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69935118C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2603C>T	10.37:g.69935118C>T	ENSP00000351790:p.Pro868Leu					MYPN_uc001jnn.3_Missense_Mutation_p.P593L|MYPN_uc001jno.3_Missense_Mutation_p.P868L|MYPN_uc009xpt.2_Missense_Mutation_p.P868L|MYPN_uc010qit.1_Missense_Mutation_p.P574L|MYPN_uc010qiu.1_Intron	p.P868L	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			13	2788	+			868					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2603C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894665	0.33442	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.57436	0.4;0.45;0.43	5.87	5.87	0.94306	.	0.887834	0.10067	N	0.720180	T	0.39306	0.1073	N	0.21448	0.665	0.33832	D	0.630387	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.35798	-0.9774	9	.	.	.	.	10.9511	0.47330	0.0:0.86:0.0:0.14	.	868;593;868	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	L	593;593;868;868	ENSP00000346369:P593L;ENSP00000351790:P868L;ENSP00000441668:P868L	.	P	+	2	0	MYPN	69605124	0.041000	0.20044	0.987000	0.45799	0.998000	0.95712	2.617000	0.46385	2.941000	0.99782	0.655000	0.94253	CCT		0.433	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		14	24	0	0	0	0	14	24				
SLC25A16	8034	broad.mit.edu	37	10	70246946	70246946	+	Missense_Mutation	SNP	C	C	T	rs370997821		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:70246946C>T	ENST00000609923.1	-	8	895	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Missense_Mutation_p.R168Q	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	266					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TTGCATTCGCCGACGAGTCAC	0.333																																						uc001joi.2		NA																	0					0						c.(796-798)CGG>CAG		solute carrier family 25, member 16		C	GLN/ARG	1,4405		0,1,2202	128.0	128.0	128.0		797	4.2	1.0	10		128	0,8600		0,0,4300	no	missense	SLC25A16	NM_152707.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	266/333	70246946	1,13005	2203	4300	6503	SO:0001583	missense	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70246946C>T	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.797G>A	10.37:g.70246946C>T	ENSP00000476815:p.Arg266Gln					SLC25A16_uc010qix.1_Missense_Mutation_p.R132Q|SLC25A16_uc010qiy.1_Missense_Mutation_p.R168Q|SLC25A16_uc001joj.2_Missense_Mutation_p.R168Q	p.R266Q	NM_152707	NP_689920	P16260	GDC_HUMAN			8	1249	-			266			Solcar 3.		Q8N2U1	Missense_Mutation	SNP	ENST00000609923.1	37	c.797G>A	CCDS7280.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796444	0.70567	2.27E-4	0.0	ENSG00000122912	ENST00000265870;ENST00000539557	T;T	0.79033	-1.23;-1.23	5.14	4.22	0.49857	Mitochondrial carrier domain (2);	0.167682	0.51477	D	0.000097	D	0.92315	0.7562	H	0.98333	4.205	0.51767	D	0.99993	D	0.89917	1.0	D	0.85130	0.997	D	0.94655	0.7843	10	0.72032	D	0.01	-7.7348	14.0554	0.64764	0.0:0.9254:0.0:0.0746	.	266	P16260	GDC_HUMAN	Q	266;168	ENSP00000265870:R266Q;ENSP00000443914:R168Q	ENSP00000265870:R266Q	R	-	2	0	SLC25A16	69916952	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	7.394000	0.79862	2.403000	0.81681	0.644000	0.83932	CGG		0.333	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			52	125	0	0	0	0	52	125				
SAR1A	56681	broad.mit.edu	37	10	71913632	71913632	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:71913632G>A	ENST00000373242.2	-	7	638	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	SAR1A_ENST00000458634.2_Missense_Mutation_p.R105C|SAR1A_ENST00000431664.2_Missense_Mutation_p.R148C|SAR1A_ENST00000373238.1_Missense_Mutation_p.R148C|SAR1A_ENST00000373241.4_Missense_Mutation_p.R148C	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	148					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AATATCTCACGGAGTTTTTCT	0.338																																						uc010qjh.1		NA																	0					0						c.(442-444)CGT>TGT		SAR1a gene homolog 1							230.0	234.0	232.0					10																	71913632		2203	4300	6503	SO:0001583	missense	56681				ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity	g.chr10:71913632G>A		CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.442C>T	10.37:g.71913632G>A	ENSP00000362339:p.Arg148Cys					SAR1A_uc010qji.1_Missense_Mutation_p.R148C|SAR1A_uc010qjj.1_Missense_Mutation_p.R105C	p.R148C	NM_001142648	NP_001136120	Q9NR31	SAR1A_HUMAN			7	645	-			148					B4DQ19	Missense_Mutation	SNP	ENST00000373242.2	37	c.442C>T	CCDS7298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.537249|3.537249	0.65085|0.65085	.|.	.|.	ENSG00000079332|ENSG00000079332	ENST00000452767|ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000458634;ENST00000395026	.|T;T;T;T;T	.|0.65732	.|-0.17;-0.17;-0.17;-0.17;-0.17	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72036|0.72036	0.3411|0.3411	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	.|D	.|0.53312	.|0.959	.|P	.|0.48141	.|0.568	T|T	0.78135|0.78135	-0.2322|-0.2322	5|10	.|0.66056	.|D	.|0.02	.|.	12.7532|12.7532	0.57320|0.57320	0.0:0.0:0.8359:0.1641|0.0:0.0:0.8359:0.1641	.|.	.|148	.|Q9NR31	.|SAR1A_HUMAN	L|C	64|148;148;148;148;148;105;67	.|ENSP00000362338:R148C;ENSP00000362335:R148C;ENSP00000362339:R148C;ENSP00000399698:R148C;ENSP00000437979:R105C	.|ENSP00000362335:R148C	P|R	-|-	2|1	0|0	SAR1A|SAR1A	71583638|71583638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.839000|2.839000	0.48207|0.48207	2.519000|2.519000	0.84933|0.84933	0.650000|0.650000	0.86243|0.86243	CCG|CGT		0.338	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048500.2			31	196	0	0	0	0	31	196				
KCNMA1	3778	broad.mit.edu	37	10	78674745	78674745	+	Missense_Mutation	SNP	G	G	A	rs143599540	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:78674745G>A	ENST00000286628.8	-	24	2964	c.2965C>T	c.(2965-2967)Cgt>Tgt	p.R989C	RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R972C|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R992C|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R993C|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R931C|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R989C|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R931C|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R931C	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	989					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GATGGTTGACGTAACATCCCG	0.483													G|||	4	0.000798722	0.003	0.0	5008	,	,		17126	0.0		0.0	False		,,,				2504	0.0					uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(2965-2967)CGT>TGT		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	5,4401	9.9+/-24.2	0,5,2198	287.0	257.0	268.0		2803,2965,2914,2791	6.1	1.0	10	dbSNP_134	268	0,8600		0,0,4300	yes	missense,missense,missense,missense	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	180,180,180,180	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign,benign,benign	935/1183,989/1237,972/1220,931/1179	78674745	5,13001	2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78674745G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2965C>T	10.37:g.78674745G>A	ENSP00000286628:p.Arg989Cys					KCNMA1_uc001jxj.2_Missense_Mutation_p.R935C|KCNMA1_uc001jxk.1_Missense_Mutation_p.R607C|KCNMA1_uc009xrt.1_Missense_Mutation_p.R780C|KCNMA1_uc001jxl.1_Missense_Mutation_p.R614C|KCNMA1_uc001jxo.2_Missense_Mutation_p.R972C|KCNMA1_uc001jxm.2_Missense_Mutation_p.R931C|KCNMA1_uc001jxq.2_Missense_Mutation_p.R934C	p.R989C	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		24	3142	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		989			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.2965C>T		1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	17.04|17.04	3.286093|3.286093	0.59867|0.59867	0.001135|0.001135	0.0|0.0	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	D;D;D;D;D;D;D;D;D|.	0.85171|.	-1.91;-1.91;-1.89;-1.89;-1.95;-1.91;-1.89;-1.9;-1.9|.	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.048652|.	0.85682|.	D|.	0.000000|.	T|T	0.57651|0.57651	0.2068|0.2068	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	D;B;B;B;B;B;B;B|.	0.76494|.	0.999;0.007;0.101;0.015;0.025;0.002;0.187;0.007|.	P;B;B;B;B;B;B;B|.	0.61397|.	0.888;0.004;0.015;0.004;0.009;0.002;0.032;0.004|.	T|T	0.50381|0.50381	-0.8835|-0.8835	10|5	0.62326|.	D|.	0.03|.	-13.0611|-13.0611	15.4518|15.4518	0.75279|0.75279	0.0:0.0:0.8613:0.1387|0.0:0.0:0.8613:0.1387	.|.	960;934;972;989;931;742;992;931|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	C|M	931;868;924;963;926;931;931;963;993;992;972;742|919;638	ENSP00000361517:R931C;ENSP00000361485:R868C;ENSP00000361514:R924C;ENSP00000396608:R963C;ENSP00000361520:R931C;ENSP00000286627:R931C;ENSP00000385552:R993C;ENSP00000346321:R992C;ENSP00000385806:R972C|.	ENSP00000286627:R931C|.	R|T	-|-	1|2	0|0	KCNMA1|KCNMA1	78344751|78344751	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.800000|0.800000	0.45204|0.45204	7.443000|7.443000	0.80521|0.80521	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.483	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		22	167	0	0	0	0	22	167				
RGR	5995	broad.mit.edu	37	10	86017674	86017674	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:86017674C>A	ENST00000359452.4	+	6	706	c.668C>A	c.(667-669)aCg>aAg	p.T223K	RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_Intron	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	219					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCAGCAAGGACGCTGCTGCTC	0.552																																					NSCLC(15;204 545 5889 6385 32445)	uc001kdc.1		NA																	0				ovary(1)	1						c.(655-657)ACG>AAG		retinal G-protein coupled receptor isoform 2							80.0	73.0	75.0					10																	86017674		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86017674C>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.668C>A	10.37:g.86017674C>A	ENSP00000352427:p.Thr223Lys					RGR_uc001kdd.1_Missense_Mutation_p.T223K|RGR_uc001kde.1_Intron	p.T219K	NM_001012720	NP_001012738	P47804	RGR_HUMAN			6	694	+			219			Cytoplasmic (Potential).		A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.656C>A	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538250	0.45176	.	.	ENSG00000148604	ENST00000359452	T	0.38887	1.11	4.48	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.224269	0.46758	D	0.000266	T	0.49575	0.1565	M	0.76574	2.34	0.80722	D	1	P;P	0.45044	0.849;0.513	B;P	0.47470	0.342;0.548	T	0.53301	-0.8458	10	0.51188	T	0.08	.	11.2827	0.49203	0.0:0.9044:0.0:0.0956	.	223;219	P47804-2;P47804	.;RGR_HUMAN	K	223	ENSP00000352427:T223K	ENSP00000352427:T223K	T	+	2	0	RGR	86007654	0.786000	0.28738	0.867000	0.34043	0.542000	0.35054	1.438000	0.35002	1.158000	0.42547	0.655000	0.94253	ACG		0.552	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		11	35	1	0	1.09e-07	1.57e-07	11	35				
PDLIM1	9124	broad.mit.edu	37	10	97050586	97050586	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:97050586G>A	ENST00000329399.6	-	1	195	c.87C>T	c.(85-87)gcC>gcT	p.A29A	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	29	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCCGGGAAATGGCGAGAGGCT	0.706																																						uc001kkh.2		NA																	0					0						c.(85-87)GCC>GCT		PDZ and LIM domain 1							19.0	21.0	20.0					10																	97050586		2203	4300	6503	SO:0001819	synonymous_variant	9124				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding	g.chr10:97050586G>A	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.87C>T	10.37:g.97050586G>A						PDLIM1_uc001kki.2_Silent_p.A29A|PDLIM1_uc009xuv.2_Silent_p.A29A|PDLIM1_uc001kkj.1_Silent_p.A29A	p.A29A	NM_020992	NP_066272	O00151	PDLI1_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	1	196	-		Colorectal(252;0.083)	29			PDZ.		B2RBS6|Q5VZH5|Q9BPZ9	Silent	SNP	ENST00000329399.6	37	c.87C>T	CCDS7441.1																																																																																				0.706	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1			9	21	0	0	0	0	9	21				
TCTN3	26123	broad.mit.edu	37	10	97440281	97440281	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:97440281G>A	ENST00000371217.5	-	13	1561	c.1538C>T	c.(1537-1539)cCg>cTg	p.P513L	TCTN3_ENST00000430368.2_Missense_Mutation_p.P365L|TCTN3_ENST00000265993.9_Missense_Mutation_p.P531L			Q6NUS6	TECT3_HUMAN	tectonic family member 3	513					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		ATGAGCTTGCGGGTTGGACAG	0.458																																						uc001klb.3		NA																	0					0						c.(1537-1539)CCG>CTG		tectonic 3 isoform a precursor							217.0	205.0	209.0					10																	97440281		2203	4300	6503	SO:0001583	missense	26123				apoptosis	integral to membrane		g.chr10:97440281G>A	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.1538C>T	10.37:g.97440281G>A	ENSP00000360261:p.Pro513Leu					TCTN3_uc001kla.3_Missense_Mutation_p.P357L|TCTN3_uc010qoi.1_Missense_Mutation_p.P365L	p.P513L	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	13	1782	-		Colorectal(252;0.0815)	513			Extracellular (Potential).		A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	c.1538C>T	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540543	0.65085	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000343162	D	0.87256	-2.23	5.57	4.67	0.58626	.	0.229222	0.23924	N	0.043215	D	0.92990	0.7769	M	0.87456	2.885	0.45580	D	0.998525	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.989;0.963;0.994	D	0.91773	0.5429	10	0.31617	T	0.26	-25.5038	10.5146	0.44881	0.0891:0.0:0.9109:0.0	.	365;513;335	B4DR81;Q6NUS6;Q6NUS6-3	.;TECT3_HUMAN;.	L	513;365;531;335	ENSP00000265993:P513L	ENSP00000265993:P513L	P	-	2	0	TCTN3	97430271	1.000000	0.71417	0.998000	0.56505	0.645000	0.38454	6.473000	0.73572	1.372000	0.46190	0.655000	0.94253	CCG		0.458	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631		35	148	0	0	0	0	35	148				
LCOR	84458	broad.mit.edu	37	10	98714903	98714903	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:98714903G>A	ENST00000371097.4	+	8	1072	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000540664.1_Missense_Mutation_p.G176R|LCOR_ENST00000356016.3_Missense_Mutation_p.G176R|LCOR_ENST00000371103.3_Missense_Mutation_p.G176R			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	176					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TGCCAGCCTTGGGCCATCTGG	0.463																																						uc001kms.1		NA																	0				ovary(3)	3						c.(526-528)GGG>AGG		ligand dependent nuclear receptor corepressor							70.0	67.0	68.0					10																	98714903		2203	4300	6503	SO:0001583	missense	84458					nucleus	DNA binding	g.chr10:98714903G>A		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.526G>A	10.37:g.98714903G>A	ENSP00000360138:p.Gly176Arg					LCOR_uc001kmr.2_Missense_Mutation_p.G176R|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.G176R|LCOR_uc001kmu.1_Missense_Mutation_p.G176R	p.G176R	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	8	1047	+		Colorectal(252;0.162)	176					D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	c.526G>A	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881732	0.51908	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.54	5.54	0.83059	.	0.344966	0.30979	N	0.008486	T	0.40767	0.1130	N	0.08118	0	0.47737	D	0.999503	B;B	0.34015	0.435;0.311	B;B	0.33121	0.076;0.158	T	0.29852	-0.9998	9	0.25751	T	0.34	1.3172	19.8472	0.96713	0.0:0.0:1.0:0.0	.	176;176	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	R	176	.	ENSP00000348298:G176R	G	+	1	0	LCOR	98704893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.917000	0.48821	2.768000	0.95171	0.650000	0.86243	GGG		0.463	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			24	33	0	0	0	0	24	33				
PDCD11	22984	broad.mit.edu	37	10	105162964	105162964	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:105162964C>A	ENST00000369797.3	+	4	418	c.324C>A	c.(322-324)ggC>ggA	p.G108G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	108	S1 motif 1. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GCCTCCAGGGCTTTGTGCAAG	0.473																																						uc001kwy.1		NA																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(322-324)GGC>GGA		programmed cell death 11							192.0	186.0	188.0					10																	105162964		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105162964C>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.324C>A	10.37:g.105162964C>A							p.G108G	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	4	411	+		Colorectal(252;0.0747)|Breast(234;0.128)	108			S1 motif 1.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.324C>A	CCDS31276.1																																																																																				0.473	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			76	135	1	0	3.55e-40	6.26e-40	76	135				
PLEKHS1	79949	broad.mit.edu	37	10	115526201	115526201	+	Missense_Mutation	SNP	A	A	C	rs201870731		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:115526201A>C	ENST00000369310.3	+	2	604	c.42A>C	c.(40-42)gaA>gaC	p.E14D	PLEKHS1_ENST00000361048.1_Missense_Mutation_p.E20D|PLEKHS1_ENST00000369312.4_5'UTR	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	14	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.																ATGAAAATGAAGTCTGCAAAC	0.353																																						uc001lat.1		NA																	0				central_nervous_system(1)	1						c.(40-42)GAA>GAC		hypothetical protein LOC79949							94.0	95.0	95.0					10																	115526201		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115526201A>C	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.42A>C	10.37:g.115526201A>C	ENSP00000358316:p.Glu14Asp					C10orf81_uc001lar.1_Missense_Mutation_p.E20D|C10orf81_uc009xyc.1_5'UTR|C10orf81_uc001las.1_Intron	p.E14D	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN		Epithelial(162;0.0181)|all cancers(201;0.0204)	2	604	+		Colorectal(252;0.175)	14			PH.		A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.42A>C	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.014663	0.75161	.	.	ENSG00000148735	ENST00000361048;ENST00000369310	T;T	0.33654	1.4;1.4	5.45	5.45	0.79879	.	0.370966	0.27379	N	0.019626	T	0.53610	0.1807	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.50693	-0.8798	10	0.39692	T	0.17	-32.1438	12.9085	0.58166	1.0:0.0:0.0:0.0	.	14;20	Q5SXH7-5;Q5SXH7-4	.;.	D	20;14	ENSP00000354332:E20D;ENSP00000358316:E14D	ENSP00000354332:E20D	E	+	3	2	C10orf81	115516191	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.167000	0.64972	2.068000	0.61886	0.533000	0.62120	GAA		0.353	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		8	57	0	0	0	0	8	57				
CPXM2	119587	broad.mit.edu	37	10	125530532	125530532	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:125530532C>T	ENST00000241305.3	-	8	1156	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	334					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TATTGGGACACATTTCATTCA	0.433																																						uc001lhk.1		NA																	0				ovary(2)	2						c.(1000-1002)ATG>ATA		carboxypeptidase X (M14 family), member 2							283.0	297.0	292.0					10																	125530532		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125530532C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1002G>A	10.37:g.125530532C>T	ENSP00000241305:p.Met334Ile					CPXM2_uc001lhj.2_RNA	p.M334I	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	8	1327	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	334					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1002G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587354	0.66105	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.10573	2.86	4.42	4.42	0.53409	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	L	0.51422	1.61	0.80722	D	1	D	0.58268	0.982	P	0.59115	0.852	T	0.01024	-1.1477	10	0.54805	T	0.06	-23.4676	17.2256	0.86969	0.0:1.0:0.0:0.0	.	334	Q8N436	CPXM2_HUMAN	I	334;167;334	ENSP00000241305:M334I	ENSP00000241305:M334I	M	-	3	0	CPXM2	125520522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.891000	0.56227	2.271000	0.75665	0.591000	0.81541	ATG		0.433	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		36	257	0	0	0	0	36	257				
NKX6-2	84504	broad.mit.edu	37	10	134598892	134598892	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:134598892G>T	ENST00000368592.5	-	2	574	c.471C>A	c.(469-471)ggC>ggA	p.G157G	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	157					central nervous system myelination (GO:0022010)|endocrine pancreas development (GO:0031018)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of glial cell differentiation (GO:0045687)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		AGATCTGCTGGCCCGAGAAGG	0.692																																						uc001llr.2		NA																	0					0						c.(469-471)GGC>GGA		NK6 transcription factor related, locus 2							19.0	24.0	23.0					10																	134598892		2175	4286	6461	SO:0001819	synonymous_variant	84504					nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:134598892G>T	AF184215	CCDS7670.1	10q26.3	2012-03-09	2007-07-09		ENSG00000148826	ENSG00000148826		"""Homeoboxes / ANTP class : NKL subclass"""	19321	protein-coding gene	gene with protein product		605955	"""NK6 transcription factor related, locus 2 (Drosophila)"""			11210186	Standard	NM_177400		Approved	NKX6B, GTX, NKX6.1	uc001llr.2	Q9C056	OTTHUMG00000019294	ENST00000368592.5:c.471C>A	10.37:g.134598892G>T							p.G157G	NM_177400	NP_796374	Q9C056	NKX62_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)	2	556	-		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)	157			Homeobox.		Q5JSF3	Silent	SNP	ENST00000368592.5	37	c.471C>A	CCDS7670.1																																																																																				0.692	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051093.2			7	8	1	0	8.13e-05	0.000110462	7	8				
KNDC1	85442	broad.mit.edu	37	10	135015044	135015044	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:135015044C>G	ENST00000304613.3	+	17	3050	c.3029C>G	c.(3028-3030)gCc>gGc	p.A1010G	KNDC1_ENST00000368571.2_Missense_Mutation_p.A945G|KNDC1_ENST00000368572.2_Missense_Mutation_p.A1012G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1010					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)		AGCAGCAGGGCCCCCTGCTCA	0.627																																						uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3028-3030)GCC>GGC		kinase non-catalytic C-lobe domain (KIND)							53.0	64.0	60.0					10																	135015044		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135015044C>G	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.3029C>G	10.37:g.135015044C>G	ENSP00000304437:p.Ala1010Gly					KNDC1_uc001lma.1_Missense_Mutation_p.A945G|KNDC1_uc001lmb.1_Missense_Mutation_p.A422G	p.A1010G	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)	17	3030	+		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)	1010					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3029C>G	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	4.281	0.051261	0.08243	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.11495	2.77;2.77;2.77	3.77	-2.1	0.07210	.	1.248330	0.06457	N	0.728813	T	0.05318	0.0141	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.001;0.004;0.001	T	0.40979	-0.9534	10	0.06757	T	0.87	-3.3786	3.2436	0.06789	0.1124:0.5115:0.187:0.1891	.	1010;945;1010	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	G	1010;1012;945	ENSP00000304437:A1010G;ENSP00000357561:A1012G;ENSP00000357560:A945G	ENSP00000304437:A1010G	A	+	2	0	KNDC1	134865034	0.025000	0.19082	0.085000	0.20634	0.027000	0.11550	-0.332000	0.07904	-0.494000	0.06669	-2.515000	0.00186	GCC		0.627	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		12	60	0	0	0	0	12	60				
MUC5B	727897	broad.mit.edu	37	11	1264265	1264265	+	Missense_Mutation	SNP	C	C	T	rs529872477	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:1264265C>T	ENST00000529681.1	+	31	6213	c.6155C>T	c.(6154-6156)cCa>cTa	p.P2052L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2055L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2052	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			P -> L (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCAAAGTGCCAACTACCACA	0.642													c|||	45	0.00898562	0.0106	0.0072	5008	,	,		17228	0.0		0.0219	False		,,,				2504	0.0041					uc009ycr.1		NA																	0					0						c.(8233-8235)CCA>CTA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							133.0	155.0	148.0					11																	1264265		2074	4201	6275	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264265C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6155C>T	11.37:g.1264265C>T	ENSP00000436812:p.Pro2052Leu					MUC5B_uc001ltb.2_Missense_Mutation_p.P2055L	p.P2745L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	8360	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2052	P -> L (in Ref. 4; CAA96577).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8234C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	t	4.987	0.183314	0.09495	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18960	2.18;2.39	1.46	-0.984	0.10259	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27088	-1.0084	9	0.87932	D	0	.	4.598	0.12340	0.0:0.5936:0.2251:0.1813	.	2745;2055	A7Y9J9;E9PBJ0	.;.	L	2052;2055;2053;2122	ENSP00000436812:P2052L;ENSP00000415793:P2055L	ENSP00000343037:P2053L	P	+	2	0	MUC5B	1220841	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.034000	0.13776	-0.798000	0.04444	-1.297000	0.01338	CCA		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	13	0	0	0	0	5	13				
MUC5B	727897	broad.mit.edu	37	11	1264268	1264268	+	Missense_Mutation	SNP	C	C	G	rs569886114	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:1264268C>G	ENST00000529681.1	+	31	6216	c.6158C>G	c.(6157-6159)aCt>aGt	p.T2053S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T2056S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2053	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAAGTGCCAACTACCACAACC	0.637													C|||	45	0.00898562	0.0106	0.0072	5008	,	,		16562	0.0		0.0219	False		,,,				2504	0.0041					uc009ycr.1		NA																	0					0						c.(8236-8238)ACT>AGT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							130.0	151.0	144.0					11																	1264268		2072	4197	6269	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264268C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6158C>G	11.37:g.1264268C>G	ENSP00000436812:p.Thr2053Ser					MUC5B_uc001ltb.2_Missense_Mutation_p.T2056S	p.T2746S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	8363	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2053			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8237C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	4.284	0.051960	0.08291	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19394	2.15;2.36	1.97	-0.213	0.13165	.	.	.	.	.	T	0.16514	0.0397	L	0.52126	1.63	0.09310	N	1	B;B	0.26081	0.141;0.141	B;B	0.20955	0.032;0.032	T	0.27331	-1.0077	9	0.87932	D	0	.	4.2239	0.10572	0.2614:0.4822:0.2564:0.0	.	2746;2056	A7Y9J9;E9PBJ0	.;.	S	2053;2056;2054;2123	ENSP00000436812:T2053S;ENSP00000415793:T2056S	ENSP00000343037:T2054S	T	+	2	0	MUC5B	1220844	0.001000	0.12720	0.000000	0.03702	0.026000	0.11368	0.000000	0.12993	-0.041000	0.13558	0.195000	0.17529	ACT		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	13	0	0	0	0	5	13				
OR51G2	81282	broad.mit.edu	37	11	4936073	4936073	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:4936073G>T	ENST00000322013.3	-	1	849	c.821C>A	c.(820-822)cCc>cAc	p.P274H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCAGGTGGGGTGCCTGCTT	0.507																																						uc001lzr.1		NA																	0				skin(2)	2						c.(820-822)CCC>CAC		olfactory receptor, family 51, subfamily G,							114.0	102.0	106.0					11																	4936073		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936073G>T	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.821C>A	11.37:g.4936073G>T	ENSP00000322593:p.Pro274His						p.P274H	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	821	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	274			Extracellular (Potential).		Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.821C>A	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652790	0.29336	.	.	ENSG00000176893	ENST00000322013	T	0.00130	8.69	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.300757	0.24249	N	0.040197	T	0.00580	0.0019	M	0.87547	2.89	0.09310	N	0.999999	D	0.69078	0.997	D	0.69142	0.962	T	0.49881	-0.8892	10	0.66056	D	0.02	.	17.5458	0.87861	0.0:0.0:1.0:0.0	.	274	Q8NGK0	O51G2_HUMAN	H	274	ENSP00000322593:P274H	ENSP00000322593:P274H	P	-	2	0	OR51G2	4892649	0.950000	0.32346	0.689000	0.30133	0.014000	0.08584	5.653000	0.67967	2.733000	0.93635	0.655000	0.94253	CCC		0.507	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		28	16	1	0	1.16e-09	1.73e-09	28	16				
MMP26	56547	broad.mit.edu	37	11	5013232	5013232	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:5013232C>A	ENST00000380390.1	+	6	850	c.634C>A	c.(634-636)Cat>Aat	p.H212N	MMP26_ENST00000300762.1_Missense_Mutation_p.H212N			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	212					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TGAGATTGGGCATTCTTTGGG	0.413																																						uc001lzv.2		NA																	0					0						c.(634-636)CAT>AAT		matrix metalloproteinase 26 preproprotein							67.0	63.0	65.0					11																	5013232		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013232C>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.634C>A	11.37:g.5013232C>A	ENSP00000369753:p.His212Asn						p.H212N	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	5	652	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	212				Zinc; catalytic (By similarity).	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.634C>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436133	0.62955	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	D;D	0.98313	-4.86;-4.86	3.79	3.79	0.43588	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.44483	D	0.000454	D	0.99245	0.9737	H	0.96805	3.885	0.43503	D	0.995756	D	0.89917	1.0	D	0.97110	1.0	D	0.98626	1.0669	10	0.87932	D	0	-11.6634	13.1821	0.59660	0.0:1.0:0.0:0.0	.	212	Q9NRE1	MMP26_HUMAN	N	212	ENSP00000369753:H212N;ENSP00000300762:H212N	ENSP00000300762:H212N	H	+	1	0	MMP26	4969808	0.992000	0.36948	0.997000	0.53966	0.601000	0.36947	3.843000	0.55865	1.949000	0.56562	0.561000	0.74099	CAT		0.413	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		5	33	1	0	0.000602214	0.000805998	5	33				
OR51B2	79345	broad.mit.edu	37	11	5345007	5345007	+	Missense_Mutation	SNP	C	C	A	rs140971687		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:5345007C>A	ENST00000328813.2	-	1	575	c.521G>T	c.(520-522)cGt>cTt	p.R174L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAAAGCACGTGTGATAAC	0.388																																						uc001mao.1		NA																	0		p.R174R(1)		ovary(2)|skin(1)	3						c.(520-522)CGT>CTT		olfactory receptor, family 51, subfamily B,							95.0	94.0	95.0					11																	5345007		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345007C>A	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.521G>T	11.37:g.5345007C>A	ENSP00000327540:p.Arg174Leu					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.R174L	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	576	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	174			Extracellular (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.521G>T	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601639	0.28534	.	.	ENSG00000184881	ENST00000328813	T	0.00091	8.74	4.28	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.382752	0.18460	U	0.140542	T	0.00109	0.0003	N	0.12182	0.205	0.24883	N	0.992219	B	0.31931	0.347	B	0.40477	0.33	T	0.19160	-1.0314	10	0.72032	D	0.01	.	7.6009	0.28075	0.0:0.1209:0.0:0.8791	.	174	Q9Y5P1	O51B2_HUMAN	L	174	ENSP00000327540:R174L	ENSP00000327540:R174L	R	-	2	0	OR51B2	5301583	0.950000	0.32346	0.862000	0.33874	0.133000	0.20885	2.742000	0.47434	0.617000	0.30160	-0.374000	0.07098	CGT		0.388	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		20	9	1	0	4.63e-17	7.55e-17	20	9				
OR51B6	390058	broad.mit.edu	37	11	5373354	5373354	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:5373354T>C	ENST00000380219.1	+	1	617	c.617T>C	c.(616-618)tTg>tCg	p.L206S	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	206					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAATGGTCTTGTTGGACTTT	0.443																																						uc010qzb.1		NA																	0				ovary(1)|skin(1)	2						c.(616-618)TTG>TCG		olfactory receptor, family 51, subfamily B,							246.0	219.0	228.0					11																	5373354		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373354T>C		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.617T>C	11.37:g.5373354T>C	ENSP00000369568:p.Leu206Ser					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L206S	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	617	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	206			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000380219.1	37	c.617T>C	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	T	9.302	1.053410	0.19907	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.43688	0.94	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.205916	0.24518	N	0.037831	T	0.44435	0.1293	L	0.33668	1.02	0.09310	N	1	P	0.45212	0.853	P	0.53809	0.735	T	0.36138	-0.9760	10	0.66056	D	0.02	.	9.6569	0.39932	0.0:0.0:0.2801:0.7199	.	206	Q9H340	O51B6_HUMAN	S	205;206	ENSP00000369568:L206S	ENSP00000369568:L206S	L	+	2	0	OR51B6	5329930	0.256000	0.24012	0.023000	0.16930	0.294000	0.27393	2.663000	0.46774	2.157000	0.67596	0.455000	0.32223	TTG		0.443	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		12	20	0	0	0	0	12	20				
DCHS1	8642	broad.mit.edu	37	11	6661270	6661270	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:6661270G>T	ENST00000299441.3	-	2	1986	c.1575C>A	c.(1573-1575)ccC>ccA	p.P525P		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTGAGGTGGGGTCAATGG	0.587																																						uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1573-1575)CCC>CCA		dachsous 1 precursor							74.0	68.0	70.0					11																	6661270		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661270G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1575C>A	11.37:g.6661270G>T							p.P525P	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1985	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	525			Extracellular (Potential).|Cadherin 5.		O15098	Silent	SNP	ENST00000299441.3	37	c.1575C>A	CCDS7771.1																																																																																				0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		18	14	1	0	1.68e-08	2.45e-08	18	14				
COPB1	1315	broad.mit.edu	37	11	14496152	14496152	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:14496152C>G	ENST00000249923.3	-	14	1926	c.1626G>C	c.(1624-1626)ttG>ttC	p.L542F	COPB1_ENST00000439561.2_Missense_Mutation_p.L542F|COPB1_ENST00000526191.1_5'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	542					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GGAATCCTCTCAAGGGAGGTC	0.443																																						uc001mli.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1624-1626)TTG>TTC		coatomer protein complex, subunit beta 1							133.0	138.0	136.0					11																	14496152		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14496152C>G	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1626G>C	11.37:g.14496152C>G	ENSP00000249923:p.Leu542Phe					COPB1_uc001mlg.2_Missense_Mutation_p.L542F|COPB1_uc001mlh.2_Missense_Mutation_p.L542F	p.L542F	NM_016451	NP_057535	P53618	COPB_HUMAN			14	1933	-			542					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1626G>C	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616495	0.66672	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.59502	0.26;0.26	5.97	-2.67	0.06059	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70176	0.3194	M	0.79805	2.47	0.58432	D	0.999998	D	0.76494	0.999	D	0.76071	0.987	T	0.70842	-0.4762	10	0.87932	D	0	-0.8942	9.3371	0.38056	0.0962:0.3845:0.0:0.5193	.	542	P53618	COPB_HUMAN	F	542	ENSP00000249923:L542F;ENSP00000397873:L542F	ENSP00000249923:L542F	L	-	3	2	COPB1	14452728	0.200000	0.23398	0.950000	0.38849	0.988000	0.76386	-0.505000	0.06367	-0.292000	0.08999	-0.136000	0.14681	TTG		0.443	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		28	133	0	0	0	0	28	133				
TPH1	7166	broad.mit.edu	37	11	18057644	18057644	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:18057644T>C	ENST00000250018.2	-	2	725	c.163A>G	c.(163-165)Aga>Gga	p.R55G	TPH1_ENST00000341556.2_Missense_Mutation_p.R55G	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	55	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GAGTTTCTTCTTTTTGATTTT	0.353																																						uc001mnp.2		NA																	0					0						c.(163-165)AGA>GGA		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						116.0	110.0	112.0					11																	18057644		2199	4293	6492	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18057644T>C	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.163A>G	11.37:g.18057644T>C	ENSP00000250018:p.Arg55Gly					TPH1_uc009yhe.2_RNA	p.R55G	NM_004179	NP_004170	P17752	TPH1_HUMAN			2	189	-			55			ACT.		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.163A>G	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490799	0.44249	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99070	-5.39;-5.39;-5.39	5.51	4.37	0.52481	Amino acid-binding ACT (1);	0.040274	0.85682	D	0.000000	D	0.96999	0.9020	L	0.40543	1.245	0.50813	D	0.999892	B	0.06786	0.001	B	0.12837	0.008	D	0.94775	0.7948	10	0.40728	T	0.16	-13.2604	12.6532	0.56774	0.0:0.0:0.1431:0.8569	.	55	P17752	TPH1_HUMAN	G	55;55;65	ENSP00000250018:R55G;ENSP00000343550:R55G;ENSP00000436081:R65G	ENSP00000250018:R55G	R	-	1	2	TPH1	18014220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.345000	0.33953	1.009000	0.39289	0.533000	0.62120	AGA		0.353	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		28	32	0	0	0	0	28	32				
MRGPRX3	117195	broad.mit.edu	37	11	18158887	18158887	+	Silent	SNP	G	G	A	rs369629735		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:18158887G>A	ENST00000396275.2	+	3	499	c.138G>A	c.(136-138)gcG>gcA	p.A46A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAGGAAACGCGGTTGTGCTCT	0.602																																						uc001mnu.2		NA																	0				ovary(1)|pancreas(1)	2						c.(136-138)GCG>GCA		MAS-related GPR, member X3							131.0	126.0	128.0					11																	18158887		2200	4293	6493	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158887G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.138G>A	11.37:g.18158887G>A							p.A46A	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	499	+			46			Helical; Name=1; (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.138G>A	CCDS7830.1																																																																																				0.602	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		6	131	0	0	0	0	6	131				
ANO5	203859	broad.mit.edu	37	11	22301227	22301227	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:22301227G>T	ENST00000324559.8	+	22	2975	c.2658G>T	c.(2656-2658)gaG>gaT	p.E886D		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	886					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATTAAAAGAGAACTTGGGAA	0.348																																						uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2656-2658)GAG>GAT		anoctamin 5 isoform a							69.0	72.0	71.0					11																	22301227		2203	4298	6501	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22301227G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2658G>T	11.37:g.22301227G>T	ENSP00000315371:p.Glu886Asp					ANO5_uc001mqj.2_Missense_Mutation_p.E885D	p.E886D	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			22	2975	+			886			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.2658G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.266002	0.40095	.	.	ENSG00000171714	ENST00000324559	T	0.71934	-0.61	5.53	0.354	0.16063	.	0.443445	0.28343	N	0.015685	T	0.44829	0.1312	N	0.08118	0	0.27221	N	0.959669	B	0.18013	0.025	B	0.14023	0.01	T	0.30031	-0.9992	10	0.33141	T	0.24	.	8.5816	0.33632	0.3744:0.0:0.6256:0.0	.	886	Q75V66	ANO5_HUMAN	D	886	ENSP00000315371:E886D	ENSP00000315371:E886D	E	+	3	2	ANO5	22257803	1.000000	0.71417	0.902000	0.35471	0.872000	0.50106	1.169000	0.31871	0.088000	0.17205	0.655000	0.94253	GAG		0.348	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		17	38	1	0	1.57e-10	2.39e-10	17	38				
SLC5A12	159963	broad.mit.edu	37	11	26734190	26734190	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:26734190T>A	ENST00000396005.3	-	2	712	c.403A>T	c.(403-405)Acg>Tcg	p.T135S	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T135S	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	135					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCACTTACCGTCTGTACAATG	0.423																																						uc001mra.2		NA																	0				ovary(1)|skin(1)	2						c.(403-405)ACG>TCG		solute carrier family 5 (sodium/glucose							331.0	284.0	300.0					11																	26734190		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26734190T>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.403A>T	11.37:g.26734190T>A	ENSP00000379326:p.Thr135Ser					SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.T135S	p.T135S	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			2	716	-			135			Helical; (Potential).		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.403A>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	T	24.3	4.510869	0.85389	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.87412	-2.25;-2.25	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.91355	0.7273	M	0.67625	2.065	0.54753	D	0.999988	P;D	0.60575	0.756;0.988	P;P	0.61722	0.461;0.893	D	0.91142	0.4946	10	0.42905	T	0.14	.	15.2167	0.73274	0.0:0.0:0.0:1.0	.	135;135	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	S	135	ENSP00000379326:T135S;ENSP00000280467:T135S	ENSP00000280467:T135S	T	-	1	0	SLC5A12	26690766	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.655000	0.83696	2.040000	0.60383	0.533000	0.62120	ACG		0.423	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		136	207	0	0	0	0	136	207				
RAG1	5896	broad.mit.edu	37	11	36595801	36595801	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:36595801G>T	ENST00000299440.5	+	2	1059	c.947G>T	c.(946-948)tGc>tTc	p.C316F		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	316					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGCCGGGTCTGCATTCTCAGA	0.507									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(946-948)TGC>TTC		recombination activating gene 1							86.0	78.0	80.0					11																	36595801		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595801G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.947G>T	11.37:g.36595801G>T	ENSP00000299440:p.Cys316Phe					RAG1_uc001mwt.2_RNA	p.C316F	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	1071	+	all_lung(20;0.226)	all_hematologic(20;0.107)	316			RING-type.	Zinc 2 (By similarity).	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.947G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110392	0.77210	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.99695	-6.43;-6.43	5.75	5.75	0.90469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96782	0.9576	10	0.87932	D	0	.	20.0116	0.97452	0.0:0.0:1.0:0.0	.	316	P15918	RAG1_HUMAN	F	316	ENSP00000434610:C316F;ENSP00000299440:C316F	ENSP00000299440:C316F	C	+	2	0	RAG1	36552377	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.476000	0.97823	2.742000	0.94016	0.650000	0.86243	TGC		0.507	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		34	32	1	0	1.71e-34	2.98e-34	34	32				
TTC17	55761	broad.mit.edu	37	11	43428727	43428727	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:43428727G>T	ENST00000039989.4	+	14	1815	c.1801G>T	c.(1801-1803)Gaa>Taa	p.E601*	TTC17_ENST00000299240.6_Nonsense_Mutation_p.E601*|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	601					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TATCCCAGAAGAAGAAATTGG	0.284																																						uc001mxi.2		NA																	0				ovary(5)	5						c.(1801-1803)GAA>TAA		tetratricopeptide repeat domain 17							101.0	106.0	105.0					11																	43428727		2203	4297	6500	SO:0001587	stop_gained	55761						binding	g.chr11:43428727G>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1801G>T	11.37:g.43428727G>T	ENSP00000039989:p.Glu601*					TTC17_uc001mxh.2_Nonsense_Mutation_p.E601*|TTC17_uc010rfj.1_Nonsense_Mutation_p.E544*|TTC17_uc001mxj.2_Nonsense_Mutation_p.E371*	p.E601*	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			14	1815	+			601					G3XAB3|Q8NEC0	Nonsense_Mutation	SNP	ENST00000039989.4	37	c.1801G>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	39	7.304762	0.98200	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	.	.	.	6.08	6.08	0.98989	.	0.087595	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-23.4946	20.2825	0.98528	0.0:0.0:1.0:0.0	.	.	.	.	X	601	.	ENSP00000039989:E601X	E	+	1	0	TTC17	43385303	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.503000	0.60407	2.894000	0.99253	0.591000	0.81541	GAA		0.284	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		31	37	1	0	1.37e-20	2.31e-20	31	37				
OR4C16	219428	broad.mit.edu	37	11	55340173	55340173	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:55340173C>A	ENST00000314634.3	+	1	570	c.570C>A	c.(568-570)acC>acA	p.T190T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTTCAGAAACCTATGTGGTTA	0.433																																						uc010rih.1		NA																	0				ovary(1)|skin(1)	2						c.(568-570)ACC>ACA		olfactory receptor, family 4, subfamily C,							93.0	89.0	90.0					11																	55340173		2201	4296	6497	SO:0001819	synonymous_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340173C>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.570C>A	11.37:g.55340173C>A							p.T190T	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	570	+		all_epithelial(135;0.0748)	190			Extracellular (Potential).		Q6IEV8	Silent	SNP	ENST00000314634.3	37	c.570C>A	CCDS31502.1																																																																																				0.433	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		33	43	1	0	6.01e-18	9.87e-18	33	43				
CLP1	10978	broad.mit.edu	37	11	57428441	57428441	+	Missense_Mutation	SNP	C	C	T	rs200588495		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:57428441C>T	ENST00000302731.4	+	3	739	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S	CLP1_ENST00000529430.1_Missense_Mutation_p.P282S|CLP1_ENST00000533682.1_Missense_Mutation_p.P271S|CLP1_ENST00000525602.1_Missense_Mutation_p.P271S	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						ACGGGACCTCCCCCACTTTGT	0.542																																						uc001nkw.2		NA																	0				ovary(1)	1						c.(811-813)CCC>TCC		ATP/GTP-binding protein isoform 1							134.0	125.0	128.0					11																	57428441		2201	4296	6497	SO:0001583	missense	10978				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	g.chr11:57428441C>T	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.619C>T	11.37:g.57428441C>T	ENSP00000304704:p.Pro207Ser					CLP1_uc010rjw.1_Missense_Mutation_p.P207S|CLP1_uc009yml.2_Missense_Mutation_p.P271S	p.P271S	NM_006831	NP_006822	Q92989	CLP1_HUMAN			3	950	+			271					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000302731.4	37	c.811C>T	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970643	0.92919	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.9	5.9	0.94986	Pre-mRNA cleavage complex II Clp1 (1);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.52573	1.65	0.80722	D	1	D;P	0.89917	1.0;0.885	D;P	0.79784	0.993;0.734	T	0.50583	-0.8811	10	0.30854	T	0.27	-2.3441	19.8718	0.96853	0.0:1.0:0.0:0.0	.	207;271	Q92989-2;Q92989	.;CLP1_HUMAN	S	282;271;271;207	ENSP00000433406:P282S;ENSP00000434995:P271S;ENSP00000436066:P271S;ENSP00000304704:P207S	ENSP00000304704:P207S	P	+	1	0	CLP1	57185017	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.787000	0.69013	2.808000	0.96608	0.650000	0.86243	CCC		0.542	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1	NM_006831		51	92	0	0	0	0	51	92				
OR5A2	219981	broad.mit.edu	37	11	59189605	59189605	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:59189605C>A	ENST00000302040.4	-	1	844	c.822G>T	c.(820-822)gtG>gtT	p.V274V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ATATGGACACCACCTTGTCCC	0.468																																						uc010rkt.1		NA																	0					0						c.(820-822)GTG>GTT		olfactory receptor, family 5, subfamily A,							91.0	85.0	87.0					11																	59189605		2201	4295	6496	SO:0001819	synonymous_variant	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189605C>A	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.822G>T	11.37:g.59189605C>A							p.V274V	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	822	-			274			Helical; Name=7; (Potential).		B9EH21|Q6IFF4|Q96RB0	Silent	SNP	ENST00000302040.4	37	c.822G>T	CCDS31560.1																																																																																				0.468	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		27	14	1	0	5.62e-17	9.13e-17	27	14				
MS4A6A	64231	broad.mit.edu	37	11	59949134	59949134	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:59949134G>T	ENST00000530839.1	-	3	559	c.67C>A	c.(67-69)Caa>Aaa	p.Q23K	MS4A6A_ENST00000420732.2_Missense_Mutation_p.Q23K|MS4A6A_ENST00000532169.1_Missense_Mutation_p.Q23K|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000323961.3_Missense_Mutation_p.Q23K|MS4A6A_ENST00000529054.1_Missense_Mutation_p.Q51K|MS4A6A_ENST00000412309.2_Missense_Mutation_p.Q51K|MS4A6A_ENST00000533023.1_Missense_Mutation_p.Q23K|MS4A6A_ENST00000528851.1_Missense_Mutation_p.Q23K|MS4A6A_ENST00000426738.2_Missense_Mutation_p.Q23K	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	23						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTCTGCTTGGGAGAAGTTG	0.428																																						uc001nor.2		NA																	0					0						c.(67-69)CAA>AAA		membrane-spanning 4-domains, subfamily A, member							215.0	192.0	200.0					11																	59949134		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59949134G>T	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.67C>A	11.37:g.59949134G>T	ENSP00000436979:p.Gln23Lys					MS4A6A_uc001noq.2_Missense_Mutation_p.Q23K|MS4A6A_uc001nos.3_Missense_Mutation_p.Q51K|MS4A6A_uc009ymv.2_Missense_Mutation_p.Q23K|MS4A6A_uc001not.2_Missense_Mutation_p.Q23K|MS4A6A_uc010rla.1_Missense_Mutation_p.Q51K|MS4A6A_uc010rlb.1_Missense_Mutation_p.Q23K	p.Q23K	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN			2	305	-			23			Cytoplasmic (Potential).		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.67C>A	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206773	0.39003	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309;ENST00000533023;ENST00000532169;ENST00000534596;ENST00000531531;ENST00000533409	T;T;T;T;T;T;T;T;T;T;T;T	0.68181	3.63;3.63;2.99;3.63;3.6;2.56;3.62;1.5;2.08;1.97;1.45;-0.31	4.68	2.73	0.32206	.	1.235520	0.06450	N	0.727485	T	0.77157	0.4089	M	0.71036	2.16	0.09310	N	1	D;P;P;P;D	0.56968	0.978;0.942;0.941;0.953;0.974	P;P;B;B;P	0.55508	0.777;0.573;0.444;0.388;0.613	T	0.60652	-0.7221	9	.	.	.	.	11.0327	0.47783	0.0:0.3636:0.6364:0.0	.	23;51;51;23;23	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;.;M4A6A_HUMAN;.	K	23;23;23;23;51;23;51;23;23;51;51;23	ENSP00000315878:Q23K;ENSP00000431901:Q23K;ENSP00000392921:Q23K;ENSP00000436979:Q23K;ENSP00000435844:Q51K;ENSP00000392770:Q23K;ENSP00000403212:Q51K;ENSP00000436172:Q23K;ENSP00000431266:Q23K;ENSP00000433436:Q51K;ENSP00000433012:Q51K;ENSP00000437152:Q23K	.	Q	-	1	0	MS4A6A	59705710	0.083000	0.21467	0.034000	0.17996	0.010000	0.07245	0.144000	0.16135	0.535000	0.28714	0.655000	0.94253	CAA		0.428	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			47	43	1	0	4.01e-20	6.75e-20	47	43				
SLC22A25	387601	broad.mit.edu	37	11	62948160	62948160	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:62948160T>C	ENST00000306494.6	-	6	1041	c.1042A>G	c.(1042-1044)Aaa>Gaa	p.K348E	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_Missense_Mutation_p.K182E|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAGATTCTTTTACATATGTTG	0.373																																						uc001nwr.1		NA																	0				ovary(3)|skin(1)	4						c.(1042-1044)AAA>GAA		putative UST1-like organic anion transporter							145.0	135.0	139.0					11																	62948160		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62948160T>C	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1042A>G	11.37:g.62948160T>C	ENSP00000307443:p.Lys348Glu					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.K348E	p.K348E	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			6	1042	-			348			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000306494.6	37	c.1042A>G	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.874136	0.33069	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.74315	0.41;-0.83	3.39	3.39	0.38822	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.420350	0.24305	N	0.039698	T	0.76176	0.3951	M	0.86953	2.85	0.09310	N	1	B;P	0.36733	0.218;0.567	B;B	0.39935	0.275;0.314	T	0.69327	-0.5174	10	0.44086	T	0.13	.	8.287	0.31935	0.0:0.0:0.0:1.0	.	346;348	A4IF29;Q6T423	.;S22AP_HUMAN	E	348;182	ENSP00000307443:K348E;ENSP00000384208:K182E	ENSP00000307443:K348E	K	-	1	0	SLC22A25	62704736	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.673000	0.25203	1.445000	0.47624	0.472000	0.43445	AAA		0.373	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		29	16	0	0	0	0	29	16				
PC	5091	broad.mit.edu	37	11	66619265	66619265	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:66619265A>T	ENST00000393958.2	-	15	2071	c.1978T>A	c.(1978-1980)Ttc>Atc	p.F660I	PC_ENST00000393955.2_Missense_Mutation_p.F660I|PC_ENST00000529047.1_5'Flank|PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.F660I	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	660	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCTCACTTGAAGACCACGTTG	0.627																																						uc001ojn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(1978-1980)TTC>ATC		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						100.0	86.0	91.0					11																	66619265		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66619265A>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1978T>A	11.37:g.66619265A>T	ENSP00000377530:p.Phe660Ile					PC_uc001ojo.1_Missense_Mutation_p.F660I|PC_uc001ojp.1_Missense_Mutation_p.F660I|PC_uc001ojm.1_5'Flank	p.F660I	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	14	2027	-		Melanoma(852;0.0525)	660			Carboxyltransferase.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.1978T>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262967	0.59431	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.97772	-4.53;-4.53;-4.53	4.43	4.43	0.53597	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	L	0.41961	1.31	0.80722	D	1	P	0.35155	0.487	B	0.37692	0.256	D	0.94058	0.7324	10	0.31617	T	0.26	.	11.7059	0.51597	1.0:0.0:0.0:0.0	.	660	P11498	PYC_HUMAN	I	660	ENSP00000377527:F660I;ENSP00000377530:F660I;ENSP00000377532:F660I	ENSP00000377527:F660I	F	-	1	0	PC	66375841	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.236000	0.65354	1.869000	0.54173	0.448000	0.29417	TTC		0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		17	25	0	0	0	0	17	25				
RSF1	51773	broad.mit.edu	37	11	77413134	77413134	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:77413134G>A	ENST00000308488.6	-	6	1442	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	RSF1_ENST00000480887.1_Silent_p.A128A|RSF1_ENST00000360355.2_Silent_p.A349A			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	380					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTGGTATCTTGGCCTGCTGGT	0.358																																						uc001oyn.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1138-1140)GCC>GCT		remodeling and spacing factor 1							84.0	86.0	86.0					11																	77413134		2200	4292	6492	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77413134G>A	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1140C>T	11.37:g.77413134G>A						RSF1_uc001oym.2_Silent_p.A128A	p.A380A	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	1260	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		380					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.1140C>T	CCDS8253.1																																																																																				0.358	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		55	72	0	0	0	0	55	72				
C11orf52	91894	broad.mit.edu	37	11	111796859	111796859	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:111796859A>G	ENST00000278601.5	+	4	404	c.308A>G	c.(307-309)tAt>tGt	p.Y103C	DIXDC1_ENST00000529225.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_3'UTR|CRYAB_ENST00000527950.1_5'Flank|RNA5SP351_ENST00000459480.1_RNA|C11orf52_ENST00000527286.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	103						extracellular vesicular exosome (GO:0070062)				lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		GCTACAGAGTATGCGACCCTT	0.547																																						uc001pmh.2		NA																	0				ovary(1)	1						c.(307-309)TAT>TGT		hypothetical protein LOC91894							85.0	73.0	77.0					11																	111796859		2201	4297	6498	SO:0001583	missense	91894							g.chr11:111796859A>G	AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.308A>G	11.37:g.111796859A>G	ENSP00000278601:p.Tyr103Cys					C11orf52_uc001pmi.2_Missense_Mutation_p.Y103C	p.Y103C	NM_080659	NP_542390	Q96A22	CK052_HUMAN		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	5	791	+		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	103						Missense_Mutation	SNP	ENST00000278601.5	37	c.308A>G	CCDS8353.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463512	0.63513	.	.	ENSG00000149300	ENST00000278601	T	0.60548	0.18	5.07	5.07	0.68467	.	0.000000	0.49916	D	0.000129	T	0.65417	0.2689	L	0.34521	1.04	0.43628	D	0.996015	D	0.89917	1.0	D	0.91635	0.999	T	0.68708	-0.5337	10	0.87932	D	0	-13.3048	12.3162	0.54958	1.0:0.0:0.0:0.0	.	103	Q96A22	CK052_HUMAN	C	103	ENSP00000278601:Y103C	ENSP00000278601:Y103C	Y	+	2	0	C11orf52	111302069	1.000000	0.71417	0.988000	0.46212	0.510000	0.34073	4.845000	0.62853	2.131000	0.65755	0.459000	0.35465	TAT		0.547	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391673.1	NM_080659		26	14	0	0	0	0	26	14				
CADM1	23705	broad.mit.edu	37	11	115049407	115049407	+	Silent	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:115049407C>G	ENST00000452722.3	-	9	1187	c.1167G>C	c.(1165-1167)ctG>ctC	p.L389L	CADM1_ENST00000536727.1_Silent_p.L390L|CADM1_ENST00000331581.6_Silent_p.L418L|CADM1_ENST00000542447.2_Silent_p.L361L|CADM1_ENST00000537058.1_Silent_p.L400L|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGAGCAAGCACAGCATGGCGA	0.542																																						uc001ppi.3		NA																	0				ovary(2)	2						c.(1165-1167)CTG>CTC		immunoglobulin superfamily, member 4D isoform 1							147.0	133.0	138.0					11																	115049407		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115049407C>G	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1167G>C	11.37:g.115049407C>G						CADM1_uc001ppf.3_Silent_p.L361L|CADM1_uc001ppk.3_Silent_p.L361L|CADM1_uc001ppj.3_Silent_p.L390L|CADM1_uc001pph.3_Silent_p.L152L	p.L389L	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	9	1296	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	389			Helical; (Potential).			Silent	SNP	ENST00000452722.3	37	c.1167G>C	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	3.527	-0.096624	0.07010	.	.	ENSG00000182985	ENST00000545380	.	.	.	5.0	1.97	0.26223	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25984	-1.0116	4	.	.	.	.	3.6442	0.08178	0.2474:0.3062:0.363:0.0833	.	.	.	.	L	360	.	.	V	-	1	0	CADM1	114554617	0.130000	0.22417	1.000000	0.80357	0.993000	0.82548	-0.519000	0.06260	0.252000	0.21531	-0.176000	0.13171	GTG		0.542	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		52	45	0	0	0	0	52	45				
HINFP	25988	broad.mit.edu	37	11	119003446	119003446	+	Missense_Mutation	SNP	G	G	T	rs575006452		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:119003446G>T	ENST00000350777.2	+	7	893	c.830G>T	c.(829-831)cGt>cTt	p.R277L	HINFP_ENST00000527410.1_Missense_Mutation_p.R277L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	277					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGCGCTTTCGTCACAGTGAG	0.542																																						uc001pvp.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(829-831)CGT>CTT		MBD2 (methyl-CpG-binding protein)-interacting							118.0	111.0	114.0					11																	119003446		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003446G>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.830G>T	11.37:g.119003446G>T	ENSP00000318085:p.Arg277Leu					HINFP_uc001pvq.2_Missense_Mutation_p.R277L|HINFP_uc001pvr.2_Missense_Mutation_p.R30L	p.R277L	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN			8	1019	+			277			C2H2-type 6.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.830G>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171622	0.94807	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.26957	1.7;1.7	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	L	0.33339	1.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31503	-0.9941	10	0.72032	D	0.01	-29.9316	19.8599	0.96779	0.0:0.0:1.0:0.0	.	277	Q9BQA5	HINFP_HUMAN	L	277	ENSP00000318085:R277L;ENSP00000436815:R277L	ENSP00000318085:R277L	R	+	2	0	HINFP	118508656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.363000	0.97131	2.710000	0.92621	0.655000	0.94253	CGT		0.542	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		40	29	1	0	1.3e-30	2.25e-30	40	29				
TECTA	7007	broad.mit.edu	37	11	120989055	120989055	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:120989055G>A	ENST00000392793.1	+	7	1102	c.831G>A	c.(829-831)ttG>ttA	p.L277L	TECTA_ENST00000264037.2_Silent_p.L277L			O75443	TECTA_HUMAN	tectorin alpha	277	VWFC.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGATGACTTGAACTGCACCG	0.512																																						uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(829-831)TTG>TTA		tectorin alpha precursor							84.0	80.0	81.0					11																	120989055		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989055G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.831G>A	11.37:g.120989055G>A							p.L277L	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	6	831	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	277			VWFC.			Silent	SNP	ENST00000392793.1	37	c.831G>A	CCDS8434.1																																																																																				0.512	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		18	16	0	0	0	0	18	16				
KIRREL3	84623	broad.mit.edu	37	11	126301325	126301325	+	Missense_Mutation	SNP	C	C	A	rs559592356	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:126301325C>A	ENST00000525144.2	-	14	1934	c.1685G>T	c.(1684-1686)cGt>cTt	p.R562L	KIRREL3_ENST00000416561.2_Missense_Mutation_p.R29L|KIRREL3_ENST00000525704.2_Missense_Mutation_p.R562L|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R550L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	562					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCTCTGGGAACGGGCACAGCA	0.607																																						uc001qea.2		NA																	0				ovary(3)	3						c.(1684-1686)CGT>CTT		kin of IRRE like 3 isoform 1							75.0	79.0	78.0					11																	126301325		2106	4229	6335	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126301325C>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1685G>T	11.37:g.126301325C>A	ENSP00000435466:p.Arg562Leu					KIRREL3_uc001qeb.2_Missense_Mutation_p.R550L|KIRREL3_uc001qec.1_Missense_Mutation_p.R562L|ST3GAL4_uc001qdx.1_Intron	p.R562L	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	14	2046	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	562			Cytoplasmic (Potential).		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.1685G>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152775	0.94645	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561;ENST00000525704	T;T;T;T	0.80566	-0.86;-0.71;-1.39;-0.63	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.87172	0.6111	L	0.46157	1.445	0.80722	D	1	D;D;D	0.71674	0.998;0.987;0.998	D;D;D	0.80764	0.994;0.953;0.963	D	0.88118	0.2830	10	0.72032	D	0.01	-7.4651	18.6559	0.91453	0.0:1.0:0.0:0.0	.	562;550;562	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	L	562;550;29;562	ENSP00000435466:R562L;ENSP00000434081:R550L;ENSP00000408692:R29L;ENSP00000435094:R562L	ENSP00000408692:R29L	R	-	2	0	KIRREL3	125806535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.479000	0.81095	2.482000	0.83794	0.462000	0.41574	CGT		0.607	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		16	12	1	0	5.01e-05	6.88e-05	16	12				
WNK1	65125	broad.mit.edu	37	12	990928	990928	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:990928C>T	ENST00000315939.6	+	13	3825	c.3182C>T	c.(3181-3183)cCg>cTg	p.P1061L	WNK1_ENST00000537687.1_Missense_Mutation_p.P1321L|WNK1_ENST00000535572.1_Missense_Mutation_p.P814L|WNK1_ENST00000340908.4_Missense_Mutation_p.P654L|WNK1_ENST00000530271.2_Missense_Mutation_p.P1559L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1061					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.P1061L(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCTACCCAGCCGACCACTTTG	0.473																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	1	Substitution - Missense(1)		prostate(1)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(3181-3183)CCG>CTG		WNK lysine deficient protein kinase 1							96.0	98.0	97.0					12																	990928		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:990928C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3182C>T	12.37:g.990928C>T	ENSP00000313059:p.Pro1061Leu					WNK1_uc001qip.3_Missense_Mutation_p.P814L|WNK1_uc001qir.3_Missense_Mutation_p.P234L	p.P1061L	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		13	3689	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1061					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3182C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991418	0.35131	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.36157	1.79;1.27;1.27;1.27;1.27	5.86	4.98	0.66077	.	0.326073	0.26891	N	0.021965	T	0.27731	0.0682	L	0.27053	0.805	0.43613	D	0.995983	B;B;B	0.18968	0.017;0.03;0.032	B;B;B	0.09377	0.004;0.004;0.002	T	0.05818	-1.0862	10	0.87932	D	0	-8.9646	13.0566	0.58984	0.0:0.9263:0.0:0.0737	.	814;814;1061	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	L	814;1061;1321;234;1559;654	ENSP00000441972:P814L;ENSP00000313059:P1061L;ENSP00000444465:P1321L;ENSP00000433548:P1559L;ENSP00000341292:P654L	ENSP00000252477:P234L	P	+	2	0	WNK1	861189	0.987000	0.35691	0.632000	0.29296	0.052000	0.14988	3.264000	0.51553	1.489000	0.48450	0.650000	0.86243	CCG		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		21	100	0	0	0	0	21	100				
KCNA6	3742	broad.mit.edu	37	12	4919476	4919476	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:4919476G>A	ENST00000280684.3	+	1	1135	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R90Q			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	90					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GACCGCAACCGGCCCAGCTTC	0.647										HNSCC(72;0.22)																												uc001qng.2		NA																	0				skin(2)|ovary(1)	3						c.(268-270)CGG>CAG		potassium voltage-gated channel, shaker-related							49.0	53.0	52.0					12																	4919476		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919476G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.269G>A	12.37:g.4919476G>A	ENSP00000280684:p.Arg90Gln	HNSCC(72;0.22)					p.R90Q	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	1135	+			90						Missense_Mutation	SNP	ENST00000280684.3	37	c.269G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033273	0.93575	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76968	-1.06;-1.06	4.45	4.45	0.53987	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.119808	0.52532	D	0.000078	D	0.92466	0.7608	H	0.97874	4.095	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.95236	0.8347	10	0.72032	D	0.01	.	16.2612	0.82547	0.0:0.0:1.0:0.0	.	90	P17658	KCNA6_HUMAN	Q	90	ENSP00000408321:R90Q;ENSP00000280684:R90Q	ENSP00000280684:R90Q	R	+	2	0	KCNA6	4789737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.458000	0.97634	2.291000	0.77112	0.462000	0.41574	CGG		0.647	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		40	50	0	0	0	0	40	50				
TNFRSF1A	7132	broad.mit.edu	37	12	6438763	6438763	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:6438763G>A	ENST00000162749.2	-	10	1382	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Silent_p.A318A	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	361	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TCTCCACCACGGCGTACAGCG	0.726																																						uc001qnu.2		NA																	0				lung(2)|skin(1)	3						c.(1081-1083)GCC>GCT		tumor necrosis factor receptor 1 precursor							14.0	15.0	15.0					12																	6438763		2200	4297	6497	SO:0001819	synonymous_variant	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438763G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1083C>T	12.37:g.6438763G>A						TNFRSF1A_uc001qnt.2_Silent_p.A253A|TNFRSF1A_uc010sey.1_Silent_p.A129A|TNFRSF1A_uc010sez.1_Silent_p.A253A|TNFRSF1A_uc009zek.2_Silent_p.A318A	p.A361A	NM_001065	NP_001056	P19438	TNR1A_HUMAN			10	1364	-			361			Death.|Cytoplasmic (Potential).		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	c.1083C>T	CCDS8542.1																																																																																				0.726	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		3	14	0	0	0	0	3	14				
PRB2	653247	broad.mit.edu	37	12	11546608	11546608	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:11546608G>T	ENST00000389362.4	-	3	439	c.404C>A	c.(403-405)cCt>cAt	p.P135H	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	135	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTCCTGGAGGAGGTGGAGG	0.607																																						uc010shk.1		NA																	0					0						c.(403-405)CCT>CAT		proline-rich protein BstNI subfamily 2							273.0	247.0	256.0					12																	11546608		2201	4298	6499	SO:0001583	missense	653247							g.chr12:11546608G>T	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.404C>A	12.37:g.11546608G>T	ENSP00000374013:p.Pro135His						p.P135H	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	439	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.404C>A	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	5.010	0.187587	0.09547	.	.	ENSG00000121335	ENST00000389362	T	0.09350	2.99	1.58	0.586	0.17434	.	3.599140	0.02403	N	0.080893	T	0.24547	0.0595	M	0.67700	2.07	0.09310	N	1	D	0.71674	0.998	P	0.61132	0.884	T	0.29488	-1.0010	10	0.15066	T	0.55	.	6.1069	0.20079	0.1953:0.0:0.8047:0.0	.	135	P02812	PRB2_HUMAN	H	135	ENSP00000374013:P135H	ENSP00000374013:P135H	P	-	2	0	PRB2	11437875	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	0.111000	0.15458	-0.031000	0.13781	0.425000	0.28330	CCT		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		149	351	1	0	4.77e-67	8.5e-67	149	351				
ATF7IP	55729	broad.mit.edu	37	12	14578009	14578009	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:14578009C>G	ENST00000540793.1	+	1	1315	c.1160C>G	c.(1159-1161)tCt>tGt	p.S387C	ATF7IP_ENST00000261168.4_Missense_Mutation_p.S387C|ATF7IP_ENST00000544627.1_Missense_Mutation_p.S395C|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S387C|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S387C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	387	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GATGCTATATCTAGCAGTATG	0.343																																						uc001rbw.2		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.(1159-1161)TCT>TGT		activating transcription factor 7 interacting							70.0	77.0	74.0					12																	14578009		2203	4299	6502	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14578009C>G	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1160C>G	12.37:g.14578009C>G	ENSP00000444589:p.Ser387Cys					ATF7IP_uc010shs.1_Missense_Mutation_p.S387C|ATF7IP_uc001rbu.2_Missense_Mutation_p.S387C|ATF7IP_uc001rbv.1_Missense_Mutation_p.S387C|ATF7IP_uc001rbx.2_Missense_Mutation_p.S387C|ATF7IP_uc010sht.1_Missense_Mutation_p.S387C|ATF7IP_uc001rby.3_Missense_Mutation_p.S387C|ATF7IP_uc001rbz.1_Missense_Mutation_p.S387C|ATF7IP_uc001rca.2_Missense_Mutation_p.S387C|ATF7IP_uc001rcb.2_Translation_Start_Site	p.S387C	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			2	1318	+			387			Glu-rich.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1160C>G	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167337	0.78339	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.46451	1.38;1.35;1.38;1.38;0.87;1.38	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000030	T	0.63850	0.2546	L	0.59436	1.845	0.49389	D	0.999784	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.998;0.999	T	0.65014	-0.6271	10	0.87932	D	0	-16.9282	19.661	0.95871	0.0:1.0:0.0:0.0	.	395;387;387;387;387	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	C	387;387;387;395;387;387	ENSP00000261168:S387C;ENSP00000443179:S387C;ENSP00000445955:S387C;ENSP00000440440:S395C;ENSP00000379575:S387C;ENSP00000444589:S387C	ENSP00000261168:S387C	S	+	2	0	ATF7IP	14469276	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.067000	0.64357	2.706000	0.92434	0.591000	0.81541	TCT		0.343	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		15	91	0	0	0	0	15	91				
ABCC9	10060	broad.mit.edu	37	12	22063217	22063217	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:22063217G>T	ENST00000261201.4	-	8	1193	c.1194C>A	c.(1192-1194)ctC>ctA	p.L398L	ABCC9_ENST00000345162.2_Silent_p.L398L|ABCC9_ENST00000261200.4_Silent_p.L398L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	398	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TAGACGTAGAGAGCCTAAGGA	0.353																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(1192-1194)CTC>CTA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						94.0	94.0	94.0					12																	22063217		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22063217G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1194C>A	12.37:g.22063217G>T						ABCC9_uc001rfh.2_Silent_p.L398L|ABCC9_uc001rfj.1_Silent_p.L398L	p.L398L	NM_005691	NP_005682	O60706	ABCC9_HUMAN			8	1214	-			398			Cytoplasmic (Potential).|ABC transmembrane type-1 1.		O60707	Silent	SNP	ENST00000261201.4	37	c.1194C>A	CCDS8694.1																																																																																				0.353	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		8	58	1	0	2.18e-05	3.02e-05	8	58				
DENND5B	160518	broad.mit.edu	37	12	31542309	31542309	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:31542309C>T	ENST00000389082.5	-	20	3854	c.3590G>A	c.(3589-3591)aGg>aAg	p.R1197K	DENND5B_ENST00000306833.6_Missense_Mutation_p.R1232K|DENND5B_ENST00000536562.1_Missense_Mutation_p.R1232K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1197	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCAATGTTCCTGGGTGCAGT	0.373																																						uc001rki.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3589-3591)AGG>AAG		DENN/MADD domain containing 5B							97.0	91.0	93.0					12																	31542309		1873	4120	5993	SO:0001583	missense	160518					integral to membrane		g.chr12:31542309C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3590G>A	12.37:g.31542309C>T	ENSP00000373734:p.Arg1197Lys					DENND5B_uc001rkh.1_Missense_Mutation_p.R1232K|DENND5B_uc009zjq.1_Intron	p.R1197K	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			20	3776	-			1197			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.3590G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726141	0.69074	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.10573	2.86;2.86;2.86	4.34	4.34	0.51931	RUN (2);	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	L	0.55481	1.735	0.58432	D	0.999999	B;B	0.29341	0.242;0.203	B;B	0.25506	0.038;0.061	T	0.08932	-1.0698	10	0.24483	T	0.36	-34.1225	17.0421	0.86492	0.0:1.0:0.0:0.0	.	1197;1232	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	K	1197;1232;1232	ENSP00000373734:R1197K;ENSP00000306482:R1232K;ENSP00000444889:R1232K	ENSP00000306482:R1232K	R	-	2	0	DENND5B	31433576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.391000	0.79828	2.239000	0.73571	0.585000	0.79938	AGG		0.373	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		13	24	0	0	0	0	13	24				
PRPF40B	25766	broad.mit.edu	37	12	50035774	50035774	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:50035774G>A	ENST00000380281.1	+	18	1849	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000548825.2_Silent_p.L617L|PRPF40B_ENST00000261897.1_Silent_p.L582L|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	595	FF 5.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CTGCCGCACTGGACGCAGGCA	0.567																																						uc001rur.1		NA																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(1783-1785)CTG>CTA		Huntingtin interacting protein C isoform 1							103.0	101.0	101.0					12																	50035774		2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50035774G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1785G>A	12.37:g.50035774G>A						FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.L617L|PRPF40B_uc001ruq.1_Silent_p.L582L|PRPF40B_uc001rus.1_Silent_p.L538L|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	p.L595L	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			18	1849	+			595					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.1785G>A																																																																																					0.567	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		22	90	0	0	0	0	22	90				
PRPF40B	25766	broad.mit.edu	37	12	50036073	50036073	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:50036073G>A	ENST00000380281.1	+	19	1938	c.1874G>A	c.(1873-1875)aGg>aAg	p.R625K	PRPF40B_ENST00000548825.2_Missense_Mutation_p.R647K|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R612K|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	625	FF 6.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GAGGCACGCAGGATGCGGCGC	0.637																																						uc001rur.1		NA																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(1873-1875)AGG>AAG		Huntingtin interacting protein C isoform 1							104.0	95.0	98.0					12																	50036073		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036073G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1874G>A	12.37:g.50036073G>A	ENSP00000369634:p.Arg625Lys					FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.R647K|PRPF40B_uc001ruq.1_Missense_Mutation_p.R612K|PRPF40B_uc001rus.1_Missense_Mutation_p.R568K|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	p.R625K	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			19	1938	+			625					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1874G>A		.	.	.	.	.	.	.	.	.	.	G	7.416	0.635807	0.14386	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.20463	2.07;2.08	4.35	4.35	0.52113	FF domain (1);	0.239881	0.26359	N	0.024836	T	0.04452	0.0122	N	0.00483	-1.445	0.80722	D	1	B;B;B	0.22276	0.04;0.067;0.067	B;B;B	0.24155	0.023;0.051;0.051	T	0.36672	-0.9738	10	0.02654	T	1	-18.0568	6.7373	0.23417	0.1945:0.0:0.8055:0.0	.	625;612;625	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	K	612;625	ENSP00000261897:R612K;ENSP00000369634:R625K	ENSP00000261897:R612K	R	+	2	0	PRPF40B	48322340	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.558000	0.67319	2.438000	0.82558	0.655000	0.94253	AGG		0.637	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		16	64	0	0	0	0	16	64				
SCN8A	6334	broad.mit.edu	37	12	52078000	52078000	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:52078000A>G	ENST00000354534.6	+	3	497	c.319A>G	c.(319-321)Agt>Ggt	p.S107G	SCN8A_ENST00000545061.1_Missense_Mutation_p.S107G|SCN8A_ENST00000550891.1_Missense_Mutation_p.S107G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	107					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTTCAGATTTAGTGCCACGCC	0.358																																						uc001ryw.2		NA																	0				ovary(7)	7						c.(319-321)AGT>GGT		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						97.0	97.0	97.0					12																	52078000		1870	4104	5974	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52078000A>G	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.319A>G	12.37:g.52078000A>G	ENSP00000346534:p.Ser107Gly					SCN8A_uc010snl.1_5'Flank|SCN8A_uc001ryx.1_5'Flank|SCN8A_uc001ryz.1_5'Flank|SCN8A_uc001ryy.2_5'Flank	p.S107G	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	3	497	+			107					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.319A>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463285	0.63513	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.97041	-4.14;-4.22;-4.17;-4.03	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	H	0.95224	3.64	0.80722	D	1	P	0.50066	0.931	B	0.42462	0.388	D	0.98715	1.0706	10	0.87932	D	0	.	14.9233	0.70856	1.0:0.0:0.0:0.0	.	107	Q9UQD0	SCN8A_HUMAN	G	107;107;107;107;20	ENSP00000448415:S107G;ENSP00000346534:S107G;ENSP00000440360:S107G;ENSP00000347255:S107G	ENSP00000346534:S107G	S	+	1	0	SCN8A	50364267	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.115000	0.94336	2.178000	0.69098	0.533000	0.62120	AGT		0.358	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		25	44	0	0	0	0	25	44				
ATF7	11016	broad.mit.edu	37	12	53925601	53925601	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:53925601A>G	ENST00000548446.2	-	9	999	c.887T>C	c.(886-888)aTg>aCg	p.M296T	ATF7_ENST00000456903.4_Missense_Mutation_p.M285T|ATF7_ENST00000420353.2_Missense_Mutation_p.M285T|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.M285T|ATF7_ENST00000328463.7_Missense_Mutation_p.M296T|ATF7_ENST00000415113.1_Missense_Mutation_p.M264T			P17544	ATF7_HUMAN	activating transcription factor 7	296	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GGCTGTCACCATGGTGCTGGC	0.537																																						uc001sdy.2		NA																	0				ovary(1)|lung(1)	2						c.(886-888)ATG>ACG		activating transcription factor 7 isoform 1							85.0	91.0	89.0					12																	53925601		2025	4191	6216	SO:0001583	missense	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53925601A>G	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.887T>C	12.37:g.53925601A>G	ENSP00000449938:p.Met296Thr					ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.M285T|ATF7_uc010sol.1_Missense_Mutation_p.M264T	p.M296T	NM_001130059	NP_001123531	P17544	ATF7_HUMAN			8	908	-			296			Transactivation domain.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37	c.887T>C		.	.	.	.	.	.	.	.	.	.	A	11.73	1.724723	0.30593	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.46063	0.88;0.88;0.92;0.89;0.89	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.42245	1.32	0.47407	D	0.999415	B;B;B	0.31817	0.341;0.118;0.007	B;B;B	0.30495	0.116;0.025;0.008	T	0.10245	-1.0638	10	0.08837	T	0.75	-16.0235	14.684	0.69037	1.0:0.0:0.0:0.0	.	264;285;296	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	T	296;296;264;285;285	ENSP00000449938:M296T;ENSP00000329212:M296T;ENSP00000404880:M264T;ENSP00000399465:M285T;ENSP00000387406:M285T	ENSP00000329212:M296T	M	-	2	0	ATF7	52211868	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.951000	0.75983	2.189000	0.69895	0.402000	0.26972	ATG		0.537	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		12	22	0	0	0	0	12	22				
GRIP1	23426	broad.mit.edu	37	12	66814550	66814550	+	Silent	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:66814550T>A	ENST00000398016.3	-	14	1700	c.1632A>T	c.(1630-1632)ccA>ccT	p.P544P	GRIP1_ENST00000286445.7_Silent_p.P596P|GRIP1_ENST00000359742.4_Silent_p.P596P	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGGGGTCTCCTGGTTTTCTAC	0.368																																						uc001stk.2		NA																	0				ovary(2)	2						c.(1630-1632)CCA>CCT		glutamate receptor interacting protein 1							157.0	145.0	148.0					12																	66814550		1827	4093	5920	SO:0001819	synonymous_variant	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66814550T>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1632A>T	12.37:g.66814550T>A						GRIP1_uc010sta.1_Silent_p.P488P|GRIP1_uc001stj.2_Silent_p.P326P|GRIP1_uc001stl.1_Silent_p.P436P|GRIP1_uc001stm.2_Silent_p.P544P	p.P544P	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	14	1873	-			596			PDZ 5.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	c.1632A>T	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	T	5.679	0.309898	0.10733	.	.	ENSG00000155974	ENST00000538164	.	.	.	5.16	-0.356	0.12583	.	.	.	.	.	T	0.55081	0.1898	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47787	-0.9090	4	.	.	.	-12.3899	8.9164	0.35585	0.0:0.3277:0.0:0.6723	.	.	.	.	L	411	.	.	Q	-	2	0	GRIP1	65100817	0.995000	0.38212	0.997000	0.53966	0.528000	0.34623	0.082000	0.14847	-0.125000	0.11703	-0.371000	0.07208	CAG		0.368	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			45	82	0	0	0	0	45	82				
PTPRR	5801	broad.mit.edu	37	12	71286643	71286643	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:71286643G>T	ENST00000283228.2	-	2	625	c.173C>A	c.(172-174)cCa>cAa	p.P58Q		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	58					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GATTTTTTGTGGGGCTATATC	0.408																																						uc001swi.1		NA																	0				skin(2)|ovary(1)	3						c.(172-174)CCA>CAA		protein tyrosine phosphatase, receptor type, R							202.0	208.0	206.0					12																	71286643		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71286643G>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.173C>A	12.37:g.71286643G>T	ENSP00000283228:p.Pro58Gln						p.P58Q	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	2	589	-			58			Extracellular (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.173C>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	5.734	0.319911	0.10845	.	.	ENSG00000153233	ENST00000283228	T	0.03065	4.06	5.86	4.91	0.64330	.	0.277746	0.18570	U	0.137378	T	0.02304	0.0071	N	0.08118	0	0.33236	D	0.556574	B	0.27498	0.18	B	0.27076	0.076	T	0.30179	-0.9987	10	0.42905	T	0.14	-11.1516	7.9599	0.30066	0.0:0.2518:0.5545:0.1937	.	58	Q15256	PTPRR_HUMAN	Q	58	ENSP00000283228:P58Q	ENSP00000283228:P58Q	P	-	2	0	PTPRR	69572910	0.857000	0.29778	0.989000	0.46669	0.175000	0.22909	0.411000	0.21115	2.776000	0.95493	0.650000	0.86243	CCA		0.408	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		60	126	1	0	7.48e-22	1.27e-21	60	126				
DUSP6	1848	broad.mit.edu	37	12	89745563	89745563	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:89745563C>A	ENST00000279488.7	-	1	1485	c.254G>T	c.(253-255)cGc>cTc	p.R85L	DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000308385.6_Missense_Mutation_p.R85L	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	85	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CCGGGTGAAGCGGTCCCGGTC	0.687																																					Colon(132;3456 5224)	uc001tay.2		NA																	0					0						c.(253-255)CGC>CTC		dual specificity phosphatase 6 isoform a							13.0	13.0	13.0					12																	89745563		2182	4273	6455	SO:0001583	missense	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745563C>A	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.254G>T	12.37:g.89745563C>A	ENSP00000279488:p.Arg85Leu					DUSP6_uc001taz.2_Missense_Mutation_p.R85L	p.R85L	NM_001946	NP_001937	Q16828	DUS6_HUMAN			1	734	-			85			Rhodanese.		O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	37	c.254G>T	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981150	0.53827	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000548755	T;T;T	0.39997	1.05;1.05;1.05	5.24	5.24	0.73138	Rhodanese-like (5);	0.099520	0.64402	D	0.000005	T	0.48132	0.1483	L	0.43598	1.365	0.80722	D	1	P;B	0.51791	0.948;0.029	P;B	0.57911	0.829;0.105	T	0.34428	-0.9829	10	0.40728	T	0.16	.	9.6019	0.39609	0.0:0.8474:0.0:0.1526	.	85;85	Q16828-2;Q16828	.;DUS6_HUMAN	L	85	ENSP00000279488:R85L;ENSP00000307835:R85L;ENSP00000446858:R85L	ENSP00000279488:R85L	R	-	2	0	DUSP6	88269694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.441000	0.35035	2.723000	0.93209	0.655000	0.94253	CGC		0.687	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		3	8	1	0	0.004672	0.00609646	3	8				
ANKS1B	56899	broad.mit.edu	37	12	99223121	99223122	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:99223121_99223122CC>AA	ENST00000547776.2	-	19	2895_2896	c.2896_2897GG>TT	c.(2896-2898)GGt>TTt	p.G966F	ANKS1B_ENST00000333732.7_5'UTR|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G192F|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000341752.7_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G966F|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G192F|ANKS1B_ENST00000549025.2_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	966						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			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)		AGTGTGATTACCACTGGGTTCC	0.441																																						uc001tge.1		NA																	0					0						c.(2896-2898)GGT>TTT		cajalin 2 isoform a																																				SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99223121_99223122CC>AA	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.2896_2897delinsAA	12.37:g.99223121_99223122delinsAA	ENSP00000449629:p.Gly966Phe					ANKS1B_uc001tgf.1_Intron|ANKS1B_uc001tgk.2_Missense_Mutation_p.G263F|ANKS1B_uc010svd.1_5'UTR|ANKS1B_uc001tgd.1_Intron|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_5'UTR|ANKS1B_uc001tgh.3_5'UTR|ANKS1B_uc001tgi.2_Missense_Mutation_p.G192F|ANKS1B_uc009ztr.2_Intron|ANKS1B_uc001tgj.2_Intron|ANKS1B_uc009ztp.2_5'UTR|ANKS1B_uc010svf.1_5'UTR|ANKS1B_uc001tgg.3_Intron|ANKS1B_uc010svg.1_Intron|ANKS1B_uc009zts.1_Missense_Mutation_p.G192F	p.G966F	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)	19	3313_3314	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	966					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	DNP	ENST00000547776.2	37	c.2896_2897GG>TT	CCDS55872.1																																																																																				0.441	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		22	39	0	0	0	0	22	39				
NR1H4	9971	broad.mit.edu	37	12	100904813	100904813	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:100904813C>A	ENST00000551379.1	+	2	395	c.367C>A	c.(367-369)Cgc>Agc	p.R123S	NR1H4_ENST00000549996.1_Missense_Mutation_p.R113S|NR1H4_ENST00000392986.3_Missense_Mutation_p.R113S|NR1H4_ENST00000548884.1_Missense_Mutation_p.R113S|NR1H4_ENST00000188403.7_Missense_Mutation_p.R123S			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	123					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	AAAGAAGCCCCGCATGGGCGC	0.527																																						uc001tht.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(367-369)CGC>AGC		nuclear receptor subfamily 1, group H, member 4							87.0	93.0	91.0					12																	100904813		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100904813C>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.367C>A	12.37:g.100904813C>A	ENSP00000447149:p.Arg123Ser					NR1H4_uc001thp.1_Missense_Mutation_p.R113S|NR1H4_uc001thq.1_Missense_Mutation_p.R113S|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.R113S|NR1H4_uc010svk.1_Missense_Mutation_p.R113S|NR1H4_uc001ths.1_Missense_Mutation_p.R123S	p.R123S	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			2	395	+			123					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.367C>A	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636525	0.67130	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.93906	-3.0;-3.06;-3.31;-3.06;-3.0	5.9	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	L	0.56124	1.755	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.99;1.0;1.0;0.902	D;P;D;D;P	0.91635	0.999;0.842;0.999;0.997;0.618	D	0.95035	0.8173	10	0.48119	T	0.1	.	14.1059	0.65088	0.3855:0.6145:0.0:0.0	.	113;123;123;113;113	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	S	113;113;113;123;123	ENSP00000448506:R113S;ENSP00000376712:R113S;ENSP00000448978:R113S;ENSP00000447149:R123S;ENSP00000188403:R123S	ENSP00000188403:R123S	R	+	1	0	NR1H4	99428944	0.971000	0.33674	0.934000	0.37439	0.779000	0.44077	1.041000	0.30291	1.455000	0.47813	0.650000	0.86243	CGC		0.527	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		22	51	1	0	3.62e-10	5.48e-10	22	51				
TRPV4	59341	broad.mit.edu	37	12	110236583	110236583	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:110236583C>T	ENST00000418703.2	-	5	1082	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	TRPV4_ENST00000541794.1_Missense_Mutation_p.A283T|TRPV4_ENST00000261740.2_Missense_Mutation_p.A330T|TRPV4_ENST00000392719.2_Missense_Mutation_p.A283T|TRPV4_ENST00000536838.1_Missense_Mutation_p.A296T|TRPV4_ENST00000346520.2_Missense_Mutation_p.A330T|TRPV4_ENST00000537083.1_Missense_Mutation_p.A330T|TRPV4_ENST00000544971.1_Missense_Mutation_p.A283T	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	330					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCAGCAATGGCCACCAGCGCA	0.592																																						uc001tpj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(988-990)GCC>ACC		transient receptor potential cation channel,							141.0	98.0	113.0					12																	110236583		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110236583C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.988G>A	12.37:g.110236583C>T	ENSP00000406191:p.Ala330Thr					TRPV4_uc001tpg.1_Missense_Mutation_p.A296T|TRPV4_uc001tph.1_Missense_Mutation_p.A283T|TRPV4_uc001tpi.1_Missense_Mutation_p.A283T|TRPV4_uc001tpk.1_Missense_Mutation_p.A330T|TRPV4_uc001tpl.1_Missense_Mutation_p.A330T	p.A330T	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			5	1083	-			330			Cytoplasmic (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.988G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	7.974	0.749670	0.15778	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	4.37	4.37	0.52481	Ankyrin repeat-containing domain (3);	0.182531	0.47852	D	0.000212	T	0.40247	0.1109	N	0.17838	0.53	0.28907	N	0.892942	B;B;B;B;B	0.30793	0.228;0.026;0.295;0.01;0.012	B;B;B;B;B	0.27715	0.034;0.005;0.082;0.01;0.004	T	0.16837	-1.0389	10	0.12103	T	0.63	-26.8382	16.4881	0.84190	0.0:1.0:0.0:0.0	.	330;330;283;283;296	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	T	330;330;283;330;283;330;283;296	ENSP00000406191:A330T;ENSP00000261740:A330T;ENSP00000376480:A283T;ENSP00000319003:A330T;ENSP00000443611:A283T;ENSP00000442738:A330T;ENSP00000442167:A283T;ENSP00000444336:A296T	ENSP00000261740:A330T	A	-	1	0	TRPV4	108720966	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	5.106000	0.64597	2.435000	0.82474	0.655000	0.94253	GCC		0.592	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		13	29	0	0	0	0	13	29				
NAA25	80018	broad.mit.edu	37	12	112512522	112512522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:112512522G>A	ENST00000261745.4	-	9	1071	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	275						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCAATCAGTCGAAAGACAGAA	0.393																																						uc001ttm.2		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(823-825)CGA>TGA		mitochondrial distribution and morphology 20							106.0	105.0	105.0					12																	112512522		2203	4300	6503	SO:0001587	stop_gained	80018					cytoplasm	protein binding	g.chr12:112512522G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.823C>T	12.37:g.112512522G>A	ENSP00000261745:p.Arg275*					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.R247*|NAA25_uc009zwa.1_Nonsense_Mutation_p.R275*	p.R275*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			9	843	-			275					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	c.823C>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	39	7.705391	0.98444	.	.	ENSG00000111300	ENST00000261745	.	.	.	5.35	5.35	0.76521	.	0.271361	0.37715	N	0.001963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-0.2957	19.4261	0.94741	0.0:0.0:1.0:0.0	.	.	.	.	X	275	.	ENSP00000261745:R275X	R	-	1	2	NAA25	110996905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.495000	0.81514	2.667000	0.90743	0.655000	0.94253	CGA		0.393	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		25	145	0	0	0	0	25	145				
TAOK3	51347	broad.mit.edu	37	12	118590137	118590137	+	Silent	SNP	G	G	A	rs143511282		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:118590137G>A	ENST00000392533.3	-	20	2920	c.2430C>T	c.(2428-2430)aaC>aaT	p.N810N	TAOK3_ENST00000419821.2_Silent_p.N810N|TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000537952.1_Silent_p.N350N|TAOK3_ENST00000536979.1_Silent_p.N5N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	810					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGGTAGGCGTTGAGCAGCT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		21488	0.001		0.0	False		,,,				2504	0.0					uc001twx.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(2428-2430)AAC>AAT		TAO kinase 3		G		2,4404	4.2+/-10.8	0,2,2201	179.0	133.0	148.0		2430	-8.9	0.4	12	dbSNP_134	148	0,8600		0,0,4300	no	coding-synonymous	TAOK3	NM_016281.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		810/899	118590137	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118590137G>A	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2430C>T	12.37:g.118590137G>A						TAOK3_uc001twv.2_Silent_p.N350N|TAOK3_uc001tww.2_Silent_p.N640N|TAOK3_uc001twy.3_Silent_p.N810N	p.N810N	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			20	2725	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		810			Potential.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	c.2430C>T	CCDS9188.1																																																																																				0.532	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		43	58	0	0	0	0	43	58				
CCDC60	160777	broad.mit.edu	37	12	119978426	119978426	+	Missense_Mutation	SNP	G	G	A	rs199812180		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:119978426G>A	ENST00000327554.2	+	14	2024	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	520										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAGTTTGTGCGAGAACACATC	0.512																																						uc001txe.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1558-1560)CGA>CAA		coiled-coil domain containing 60		G	GLN/ARG	0,4406		0,0,2203	122.0	116.0	118.0		1559	5.4	1.0	12		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC60	NM_178499.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	520/551	119978426	1,13005	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119978426G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1559G>A	12.37:g.119978426G>A	ENSP00000333374:p.Arg520Gln					uc001txf.2_Intron	p.R520Q	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	14	2024	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		520						Missense_Mutation	SNP	ENST00000327554.2	37	c.1559G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987622	0.93106	0.0	1.16E-4	ENSG00000183273	ENST00000327554	T	0.62105	0.05	5.4	5.4	0.78164	.	0.108649	0.37906	N	0.001896	T	0.79329	0.4427	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79176	-0.1911	9	.	.	.	-12.8815	16.1976	0.82042	0.0:0.0:1.0:0.0	.	520	Q8IWA6	CCD60_HUMAN	Q	520	ENSP00000333374:R520Q	.	R	+	2	0	CCDC60	118462809	0.986000	0.35501	0.972000	0.41901	0.997000	0.91878	4.940000	0.63533	2.814000	0.96858	0.655000	0.94253	CGA		0.512	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		12	92	0	0	0	0	12	92				
PXN	5829	broad.mit.edu	37	12	120650198	120650198	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr12:120650198G>C	ENST00000228307.7	-	12	1836	c.1695C>G	c.(1693-1695)ctC>ctG	p.L565L	PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000536957.1_Silent_p.L563L|PXN_ENST00000397506.3_Silent_p.L377L|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000424649.2_Silent_p.L531L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000267257.7_Silent_p.L579L|PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000458477.2_Silent_p.L398L	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	565	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAGCTGCTTGAGGCAGAAGG	0.587																																						uc001txt.2		NA																	0				ovary(1)|breast(1)	2						c.(1693-1695)CTC>CTG		paxillin isoform 1							79.0	91.0	87.0					12																	120650198		2121	4234	6355	SO:0001819	synonymous_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120650198G>C	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1695C>G	12.37:g.120650198G>C						uc001txs.1_RNA|PXN_uc001txu.2_Silent_p.L377L|PXN_uc001txv.2_Silent_p.L446L|PXN_uc001txx.2_Silent_p.L398L|PXN_uc001txy.2_Silent_p.L531L|PXN_uc001txz.2_RNA	p.L565L	NM_001080855	NP_001074324	P49023	PAXI_HUMAN			12	1826	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		565			LIM zinc-binding 4.		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	c.1695C>G	CCDS44997.1																																																																																				0.587	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		4	37	0	0	0	0	4	37				
SACS	26278	broad.mit.edu	37	13	23909308	23909308	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:23909308C>A	ENST00000382292.3	-	9	8980	c.8707G>T	c.(8707-8709)Gtt>Ttt	p.V2903F	SACS_ENST00000402364.1_Missense_Mutation_p.V2153F|SACS_ENST00000382298.3_Missense_Mutation_p.V2903F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2903					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGAACACCAACTCCATTATCA	0.418																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(8707-8709)GTT>TTT		sacsin							100.0	97.0	98.0					13																	23909308		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909308C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8707G>T	13.37:g.23909308C>A	ENSP00000371729:p.Val2903Phe					SACS_uc001uoo.2_Missense_Mutation_p.V2756F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.V2903F	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9296	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2903					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8707G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866966	0.91511	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87650	-2.11;-2.28;-2.11	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.90386	0.6991	L	0.36672	1.1	0.53005	D	0.999966	D	0.67145	0.996	D	0.67725	0.953	D	0.90882	0.4754	10	0.56958	D	0.05	.	19.1639	0.93546	0.0:1.0:0.0:0.0	.	2903	Q9NZJ4	SACS_HUMAN	F	2903;2153;2903	ENSP00000371729:V2903F;ENSP00000385844:V2153F;ENSP00000371735:V2903F	ENSP00000371729:V2903F	V	-	1	0	SACS	22807308	1.000000	0.71417	0.870000	0.34147	0.998000	0.95712	7.487000	0.81328	2.525000	0.85131	0.555000	0.69702	GTT		0.418	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		22	41	1	0	0.000295444	0.000397739	22	41				
NBEA	26960	broad.mit.edu	37	13	35735894	35735894	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:35735894A>T	ENST00000400445.3	+	23	4403	c.3869A>T	c.(3868-3870)cAg>cTg	p.Q1290L	NBEA_ENST00000310336.4_Missense_Mutation_p.Q1290L|NBEA_ENST00000379939.2_Missense_Mutation_p.Q1290L|NBEA_ENST00000540320.1_Missense_Mutation_p.Q1290L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1290					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGGCTGTGCAGGGTCGGTCT	0.413																																						uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(3868-3870)CAG>CTG		neurobeachin							88.0	79.0	82.0					13																	35735894		1886	4109	5995	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35735894A>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3869A>T	13.37:g.35735894A>T	ENSP00000383295:p.Gln1290Leu					NBEA_uc010abi.2_5'UTR	p.Q1290L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	24	4075	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1290					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.3869A>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977686	0.53720	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.04	5.04	0.67666	.	0.063235	0.64402	D	0.000004	T	0.28001	0.0690	N	0.08118	0	0.80722	D	1	B	0.26400	0.148	B	0.21360	0.034	T	0.09314	-1.0680	10	0.24483	T	0.36	.	15.0602	0.71947	1.0:0.0:0.0:0.0	.	1290	Q5T321	.	L	1290	ENSP00000440951:Q1290L;ENSP00000383295:Q1290L;ENSP00000369271:Q1290L;ENSP00000308534:Q1290L	ENSP00000308534:Q1290L	Q	+	2	0	NBEA	34633894	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.287000	0.95975	2.027000	0.59764	0.482000	0.46254	CAG		0.413	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		6	19	0	0	0	0	6	19				
OLFM4	10562	broad.mit.edu	37	13	53624258	53624258	+	Silent	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:53624258A>T	ENST00000219022.2	+	5	963	c.885A>T	c.(883-885)acA>acT	p.T295T		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	295	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CATTGAATACAGATGGGAGAC	0.443																																						uc001vhl.2		NA																	0				skin(1)	1						c.(883-885)ACA>ACT		olfactomedin 4 precursor							114.0	101.0	105.0					13																	53624258		2203	4300	6503	SO:0001819	synonymous_variant	10562				cell adhesion	extracellular space		g.chr13:53624258A>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.885A>T	13.37:g.53624258A>T						OLFM4_uc001vhk.1_Intron	p.T295T	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	885	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	295			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.885A>T	CCDS9440.1																																																																																				0.443	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		40	65	0	0	0	0	40	65				
BORA	79866	broad.mit.edu	37	13	73320896	73320896	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:73320896G>A	ENST00000390667.5	+	10	1226	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T	BORA_ENST00000377815.3_Missense_Mutation_p.A307T	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	377					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										CTCATCACCCGCCATGGATGC	0.438																																						uc001viv.1		NA																	0					0						c.(1129-1131)GCC>ACC		aurora borealis							117.0	114.0	115.0					13																	73320896		1941	4149	6090	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73320896G>A	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1129G>A	13.37:g.73320896G>A	ENSP00000375082:p.Ala377Thr					C13orf34_uc010thq.1_Missense_Mutation_p.A152T|C13orf34_uc010aen.1_Missense_Mutation_p.A452T|C13orf34_uc010thr.1_Missense_Mutation_p.A307T|C13orf34_uc001viw.1_Missense_Mutation_p.A326T	p.A377T	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	10	1248	+		Breast(118;0.0735)	377					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.1129G>A	CCDS9446.1	.	.	.	.	.	.	.	.	.	.	G	5.053	0.195468	0.09599	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.47177	0.85;0.85	5.8	3.04	0.35103	.	0.803378	0.12072	N	0.502176	T	0.25717	0.0626	N	0.24115	0.695	0.09310	N	1	B;B;B;P	0.40931	0.055;0.032;0.055;0.733	B;B;B;B	0.28465	0.008;0.005;0.005;0.09	T	0.04029	-1.0983	10	0.15499	T	0.54	0.4148	9.7604	0.40528	0.1289:0.1158:0.7553:0.0	.	307;377;437;377	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	T	307;377	ENSP00000367046:A307T;ENSP00000375082:A377T	ENSP00000367046:A307T	A	+	1	0	BORA	72218897	0.000000	0.05858	0.002000	0.10522	0.379000	0.30106	0.679000	0.25291	0.785000	0.33685	0.655000	0.94253	GCC		0.438	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		33	68	0	0	0	0	33	68				
TBC1D4	9882	broad.mit.edu	37	13	75936702	75936702	+	Silent	SNP	C	C	T	rs373080119		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:75936702C>T	ENST00000377636.3	-	2	886	c.540G>A	c.(538-540)gcG>gcA	p.A180A	TBC1D4_ENST00000431480.2_Silent_p.A180A|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.A180A	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	180	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTTTCATGGCCGCTTTAGATA	0.413																																						uc001vjl.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(538-540)GCG>GCA		TBC1 domain family, member 4							170.0	161.0	164.0					13																	75936702		1869	4107	5976	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75936702C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.540G>A	13.37:g.75936702C>T						TBC1D4_uc010aer.2_Silent_p.A180A|TBC1D4_uc010aes.2_Silent_p.A180A	p.A180A	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	2	887	-		Prostate(6;0.014)|Breast(118;0.0982)	180			PID 1.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.540G>A	CCDS41901.1																																																																																				0.413	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		69	151	0	0	0	0	69	151				
IPO5	3843	broad.mit.edu	37	13	98642692	98642692	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:98642692G>A	ENST00000490680.1	+	6	635	c.570G>A	c.(568-570)agG>agA	p.R190R	IPO5_ENST00000261574.5_Silent_p.R208R|IPO5_ENST00000539640.1_Intron			O00410	IPO5_HUMAN	importin 5	190					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTTAGATCAGGACGTTATCTG	0.343																																						uc001vnf.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(568-570)AGG>AGA		importin 5							88.0	85.0	86.0					13																	98642692		2203	4300	6503	SO:0001819	synonymous_variant	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98642692G>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.570G>A	13.37:g.98642692G>A						IPO5_uc001vne.2_Silent_p.R208R|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Silent_p.R130R	p.R190R	NM_002271	NP_002262	O00410	IPO5_HUMAN			6	635	+			190					B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37	c.570G>A		.	.	.	.	.	.	.	.	.	.	G	0.107	-1.143480	0.01728	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.51	-0.234	0.13074	.	.	.	.	.	T	0.60170	0.2248	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53578	-0.8419	4	.	.	.	-0.1904	12.1444	0.54016	0.4147:0.0:0.5853:0.0	.	.	.	.	E	192	.	.	G	+	2	0	IPO5	97440693	1.000000	0.71417	0.214000	0.23707	0.017000	0.09413	0.446000	0.21694	-0.593000	0.05844	-1.731000	0.00696	GGA		0.343	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		21	49	0	0	0	0	21	49				
RNF113B	140432	broad.mit.edu	37	13	98828638	98828638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:98828638G>A	ENST00000267291.6	-	1	881	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	285							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGGGTGGCCCGGAAGTGCTCC	0.557																																						uc001vnk.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(853-855)CGG>TGG		ring finger protein 113B							97.0	104.0	102.0					13																	98828638		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98828638G>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.853C>T	13.37:g.98828638G>A	ENSP00000267291:p.Arg285Trp					FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	p.R285W	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	884	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		285			RING-type.		Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.853C>T	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302839	0.40795	.	.	ENSG00000139797	ENST00000267291	T	0.80123	-1.34	1.57	0.687	0.18020	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	U	0.000000	D	0.87466	0.6184	M	0.85462	2.755	0.46981	D	0.999275	D	0.89917	1.0	D	0.91635	0.999	D	0.84668	0.0710	10	0.87932	D	0	.	5.966	0.19325	0.1921:0.0:0.8079:0.0	.	285	Q8IZP6	R113B_HUMAN	W	285	ENSP00000267291:R285W	ENSP00000267291:R285W	R	-	1	2	RNF113B	97626639	1.000000	0.71417	0.987000	0.45799	0.302000	0.27658	4.268000	0.58883	0.219000	0.20840	0.591000	0.81541	CGG		0.557	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		18	85	0	0	0	0	18	85				
NALCN	259232	broad.mit.edu	37	13	101762992	101762992	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:101762992G>T	ENST00000251127.6	-	20	2423	c.2342C>A	c.(2341-2343)tCt>tAt	p.S781Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	781					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S781Y(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTTTCAAGAGATTTTCCCCT	0.383																																						uc001vox.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2341-2343)TCT>TAT		voltage gated channel like 1							173.0	157.0	162.0					13																	101762992		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101762992G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2342C>A	13.37:g.101762992G>T	ENSP00000251127:p.Ser781Tyr						p.S781Y	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			20	2531	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		781			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2342C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500119	0.64298	.	.	ENSG00000102452	ENST00000251127	D	0.97710	-4.5	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95069	0.8403	N	0.22421	0.69	0.80722	D	1	B	0.14805	0.011	B	0.14578	0.011	D	0.91133	0.4939	10	0.59425	D	0.04	.	19.4533	0.94876	0.0:0.0:1.0:0.0	.	781	Q8IZF0	NALCN_HUMAN	Y	781	ENSP00000251127:S781Y	ENSP00000251127:S781Y	S	-	2	0	NALCN	100560993	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.604000	0.88044	0.555000	0.69702	TCT		0.383	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		23	64	1	0	6.13e-19	1.02e-18	23	64				
MYO16	23026	broad.mit.edu	37	13	109379876	109379876	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr13:109379876C>A	ENST00000357550.2	+	3	427	c.386C>A	c.(385-387)cCc>cAc	p.P129H	MYO16_ENST00000251041.5_Missense_Mutation_p.P129H|MYO16_ENST00000356711.2_Missense_Mutation_p.P129H	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCTGGACGCCCATGCACATT	0.423																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(385-387)CCC>CAC		myosin heavy chain Myr 8							209.0	184.0	193.0					13																	109379876		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109379876C>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.386C>A	13.37:g.109379876C>A	ENSP00000350160:p.Pro129His					MYO16_uc010agk.1_Missense_Mutation_p.P151H	p.P129H	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		4	512	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		129			ANK 3.			Missense_Mutation	SNP	ENST00000357550.2	37	c.386C>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756027	0.69648	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.71461	-0.57;-0.57;-0.57	4.68	4.68	0.58851	Ankyrin repeat-containing domain (4);	0.222766	0.22544	U	0.058697	D	0.88749	0.6521	H	0.96175	3.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.934;0.951	D	0.92548	0.6047	9	.	.	.	.	16.9776	0.86317	0.0:1.0:0.0:0.0	.	129;129	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	H	129	ENSP00000349145:P129H;ENSP00000350160:P129H;ENSP00000251041:P129H	.	P	+	2	0	MYO16	108177877	1.000000	0.71417	0.832000	0.32986	0.738000	0.42128	6.738000	0.74822	2.310000	0.77875	0.462000	0.41574	CCC		0.423	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		28	46	1	0	4.88e-14	7.71e-14	28	46				
MYH6	4624	broad.mit.edu	37	14	23870013	23870013	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:23870013A>T	ENST00000356287.3	-	12	1344	c.1315T>A	c.(1315-1317)Tgg>Agg	p.W439R	MYH6_ENST00000405093.3_Missense_Mutation_p.W439R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	439	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTCACCATCCAGTTGAACATC	0.567																																						uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(1315-1317)TGG>AGG		myosin heavy chain 6							164.0	127.0	139.0					14																	23870013		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23870013A>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1315T>A	14.37:g.23870013A>T	ENSP00000348634:p.Trp439Arg					MYH6_uc010akp.1_Missense_Mutation_p.W439R	p.W439R	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	13	1382	-	all_cancers(95;2.54e-05)		439			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1315T>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.219371	0.79464	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.91237	-2.81;-2.81	4.03	4.03	0.46877	Myosin head, motor domain (2);	.	.	.	.	D	0.96911	0.8991	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97672	1.0167	9	0.87932	D	0	.	12.5034	0.55968	1.0:0.0:0.0:0.0	.	439;439	D9YZU2;P13533	.;MYH6_HUMAN	R	439	ENSP00000386041:W439R;ENSP00000348634:W439R	ENSP00000348634:W439R	W	-	1	0	MYH6	22939853	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.037000	0.76531	1.610000	0.50200	0.473000	0.43528	TGG		0.567	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			34	54	0	0	0	0	34	54				
NYNRIN	57523	broad.mit.edu	37	14	24877130	24877130	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:24877130C>T	ENST00000382554.3	+	3	572	c.254C>T	c.(253-255)cCg>cTg	p.P85L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	85					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CGCTACCCACCGATCCTGCAC	0.632																																						uc001wpf.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(253-255)CCG>CTG		hypothetical protein LOC57523							81.0	86.0	84.0					14																	24877130		2071	4209	6280	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877130C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.254C>T	14.37:g.24877130C>T	ENSP00000371994:p.Pro85Leu						p.P85L	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			3	572	+			85					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.254C>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437870	0.25900	.	.	ENSG00000205978	ENST00000382554	T	0.10573	2.86	4.93	2.11	0.27256	.	0.485483	0.15200	N	0.275092	T	0.10465	0.0256	M	0.63428	1.95	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.36163	-0.9759	10	0.87932	D	0	.	1.7086	0.02887	0.1695:0.4855:0.1644:0.1806	.	85	Q9P2P1	NYNRI_HUMAN	L	85	ENSP00000371994:P85L	ENSP00000371994:P85L	P	+	2	0	NYNRIN	23946970	0.000000	0.05858	0.000000	0.03702	0.949000	0.60115	0.534000	0.23098	0.266000	0.21894	0.563000	0.77884	CCG		0.632	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			22	92	0	0	0	0	22	92				
NAA30	122830	broad.mit.edu	37	14	57866573	57866573	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:57866573A>G	ENST00000556492.1	+	4	1077	c.923A>G	c.(922-924)tAt>tGt	p.Y308C	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Missense_Mutation_p.Y50C	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	308	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AAAGCTATATATGCCATGGTT	0.264																																						uc001xcx.3		NA																	0				skin(1)	1						c.(922-924)TAT>TGT		N-acetyltransferase 12							139.0	157.0	151.0					14																	57866573		2203	4298	6501	SO:0001583	missense	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57866573A>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.923A>G	14.37:g.57866573A>G	ENSP00000452521:p.Tyr308Cys					NAA30_uc010trk.1_Missense_Mutation_p.Y50C|NAA30_uc010aow.2_Intron	p.Y308C	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN			4	1077	+			308			N-acetyltransferase.		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	c.923A>G	CCDS32088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.65|19.65	3.867219|3.867219	0.72065|0.72065	.|.	.|.	ENSG00000139977|ENSG00000139977	ENST00000298406|ENST00000555166;ENST00000556492;ENST00000395257	.|T;T	.|0.21191	.|2.02;2.02	5.64|5.64	5.64|5.64	0.86602|0.86602	.|GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.25195|0.25195	0.0612|0.0612	N|N	0.20574|0.20574	0.59|0.59	0.80722|0.80722	D|D	1|1	.|D	.|0.57257	.|0.979	.|P	.|0.54431	.|0.752	T|T	0.02251|0.02251	-1.1188|-1.1188	5|10	.|0.38643	.|T	.|0.18	-3.9222|-3.9222	15.8735|15.8735	0.79141|0.79141	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|308	.|Q147X3	.|NAA30_HUMAN	V|C	120|50;308;271	.|ENSP00000450939:Y50C;ENSP00000452521:Y308C	.|ENSP00000298406:Y308C	M|Y	+|+	1|2	0|0	NAA30|NAA30	56936326|56936326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.313000|9.313000	0.96297|0.96297	2.149000|2.149000	0.67028|0.67028	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.264	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		59	57	0	0	0	0	59	57				
SLC38A6	145389	broad.mit.edu	37	14	61519120	61519120	+	Silent	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:61519120C>G	ENST00000267488.4	+	16	1460	c.1344C>G	c.(1342-1344)ctC>ctG	p.L448L	SLC38A6_ENST00000456840.2_Intron|SLC38A6_ENST00000354886.2_Intron	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	448					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTTTAGCACTCATCATTTTTG	0.289																																						uc001xfg.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1342-1344)CTC>CTG		solute carrier family 38, member 6							69.0	68.0	69.0					14																	61519120		2197	4290	6487	SO:0001819	synonymous_variant	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61519120C>G	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.1344C>G	14.37:g.61519120C>G						SLC38A6_uc001xfh.1_Intron|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Intron	p.L448L	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	16	1460	+			448			Helical; (Potential).		C9JWA6|Q86SY5	Silent	SNP	ENST00000267488.4	37	c.1344C>G	CCDS9751.1																																																																																				0.289	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			4	9	0	0	0	0	4	9				
NRXN3	9369	broad.mit.edu	37	14	79933568	79933568	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr14:79933568C>T	ENST00000557594.1	+	2	1205	c.252C>T	c.(250-252)ggC>ggT	p.G84G	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Silent_p.G84G|NRXN3_ENST00000428277.2_Silent_p.G84G|NRXN3_ENST00000554719.1_Silent_p.G716G|NRXN3_ENST00000335750.5_Silent_p.G716G	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	84					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTGCAGCTGGCGCTACGTACA	0.557																																						uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2146-2148)GGC>GGT		neurexin 3 isoform 1 precursor							114.0	84.0	94.0					14																	79933568		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79933568C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.252C>T	14.37:g.79933568C>T						NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.G84G|NRXN3_uc010asw.2_Silent_p.G84G|NRXN3_uc001xur.3_Silent_p.G84G	p.G716G	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	13	2639	+		Renal(4;0.00876)	1089			Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37	c.2148C>T																																																																																					0.557	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		8	27	0	0	0	0	8	27				
NDN	4692	broad.mit.edu	37	15	23931618	23931618	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:23931618G>A	ENST00000331837.4	-	1	832	c.747C>T	c.(745-747)cgC>cgT	p.R249R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	249	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGTATGGGACGCGCTGGTACT	0.587									Prader-Willi syndrome																													uc001ywk.2		NA																	0					0						c.(745-747)CGC>CGT		necdin							39.0	37.0	38.0					15																	23931618		2202	4300	6502	SO:0001819	synonymous_variant	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931618G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.747C>T	15.37:g.23931618G>A							p.R249R	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	833	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	249			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.747C>T	CCDS10014.1																																																																																				0.587	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		20	21	0	0	0	0	20	21				
NPAP1	23742	broad.mit.edu	37	15	24921238	24921238	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:24921238C>A	ENST00000329468.2	+	1	698	c.224C>A	c.(223-225)cCt>cAt	p.P75H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	75					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TGTCCTCTCCCTCGGGCTGCG	0.711																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(223-225)CCT>CAT		hypothetical protein LOC23742							16.0	19.0	18.0					15																	24921238		2177	4255	6432	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921238C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.224C>A	15.37:g.24921238C>A	ENSP00000333735:p.Pro75His						p.P75H	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	698	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	75						Missense_Mutation	SNP	ENST00000329468.2	37	c.224C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.271201	0.23221	.	.	ENSG00000185823	ENST00000329468	T	0.05855	3.38	2.39	-4.78	0.03209	.	1.994710	0.03007	N	0.148926	T	0.09379	0.0231	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	P	0.52514	0.701	T	0.21690	-1.0238	10	0.25751	T	0.34	.	7.7657	0.28978	0.1666:0.6076:0.2258:0.0	.	75	Q9NZP6	CO002_HUMAN	H	75	ENSP00000333735:P75H	ENSP00000333735:P75H	P	+	2	0	C15orf2	22472331	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.352000	0.01091	-2.994000	0.00278	0.430000	0.28490	CCT		0.711	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		13	35	1	0	4.37e-10	6.59e-10	13	35				
NPAP1	23742	broad.mit.edu	37	15	24923722	24923722	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:24923722C>A	ENST00000329468.2	+	1	3182	c.2708C>A	c.(2707-2709)gCc>gAc	p.A903D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	903					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ACACTTGGGGCCACTGATGGG	0.498																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2707-2709)GCC>GAC		hypothetical protein LOC23742							127.0	134.0	132.0					15																	24923722		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923722C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2708C>A	15.37:g.24923722C>A	ENSP00000333735:p.Ala903Asp						p.A903D	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3182	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	903						Missense_Mutation	SNP	ENST00000329468.2	37	c.2708C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	14.50	2.553841	0.45487	.	.	ENSG00000185823	ENST00000329468	T	0.10573	2.86	1.49	-0.856	0.10697	.	1.904680	0.03051	N	0.154573	T	0.09598	0.0236	N	0.22421	0.69	0.09310	N	1	D	0.62365	0.991	P	0.47102	0.537	T	0.11717	-1.0576	10	0.51188	T	0.08	.	2.7377	0.05245	0.0:0.4782:0.3047:0.2171	.	903	Q9NZP6	CO002_HUMAN	D	903	ENSP00000333735:A903D	ENSP00000333735:A903D	A	+	2	0	C15orf2	22474815	0.002000	0.14202	0.000000	0.03702	0.550000	0.35303	0.024000	0.13555	-0.222000	0.09958	0.313000	0.20887	GCC		0.498	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		75	92	1	0	1.16e-35	2.02e-35	75	92				
SNRPN	6638	broad.mit.edu	37	15	25213119	25213119	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:25213119C>A	ENST00000400100.1	+	0	637				SNRPN_ENST00000577565.1_De_novo_Start_InFrame|SNURF_ENST00000551312.2_Missense_Mutation_p.P51T|SNURF_ENST00000577949.1_Missense_Mutation_p.P51T|SNURF_ENST00000338327.4_Missense_Mutation_p.P51T|SNRPN_ENST00000390687.4_De_novo_Start_OutOfFrame|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000338094.6_Missense_Mutation_p.P51T|SNRPN_ENST00000400097.1_De_novo_Start_OutOfFrame|SNRPN_ENST00000346403.6_De_novo_Start_InFrame|SNRPN_ENST00000554227.2_De_novo_Start_OutOfFrame|SNRPN_ENST00000400098.1_De_novo_Start_OutOfFrame	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N						response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCAGCAAGTACCTGTGGTGGA	0.433									Prader-Willi syndrome																													uc001ywu.2		NA																	0					0						c.(151-153)CCT>ACT		SNRPN upstream reading frame protein							141.0	132.0	135.0					15																	25213119		2203	4300	6503			8926		Familial Cancer Database	Prader-Labhart-Willi syndrome		nucleus		g.chr15:25213119C>A	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.-254C>A	15.37:g.25213119C>A						SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywv.1_5'UTR|SNRPN_uc001yww.1_5'UTR|SNRPN_uc001ywx.1_5'UTR|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_RNA|SNRPN_uc001ywy.1_Missense_Mutation_p.P51T	p.P51T	NM_022804	NP_073715	Q9Y675	SNURF_HUMAN		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)	3	277	+		all_cancers(20;1.4e-21)|Breast(32;0.000625)	51					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.151C>A	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041396	0.35989	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.39	3.39	0.38822	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.30216	N	0.797273	D	0.69078	0.997	D	0.71870	0.975	T	0.60224	-0.7305	7	0.62326	D	0.03	-1.074	10.5864	0.45286	0.0:1.0:0.0:0.0	.	51	Q9Y675	SNURF_HUMAN	T	51	.	ENSP00000336543:P51T	P	+	1	0	SNURF	22764212	0.910000	0.30920	0.926000	0.36857	0.843000	0.47879	2.328000	0.43867	2.183000	0.69458	0.563000	0.77884	CCT		0.433	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		41	70	1	0	1.32e-36	2.32e-36	41	70				
ATP10A	57194	broad.mit.edu	37	15	25940151	25940151	+	Missense_Mutation	SNP	C	C	T	rs150976669		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:25940151C>T	ENST00000356865.6	-	14	3014	c.2903G>A	c.(2902-2904)cGc>cAc	p.R968H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	968					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGGGTCTGCGGCCAGAGGC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19196	0.0		0.0	False		,,,				2504	0.001					uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2902-2904)CGC>CAC		ATPase, class V, type 10A		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	99.0	101.0		2903	0.6	0.1	15	dbSNP_134	101	0,8600		0,0,4300	no	missense	ATP10A	NM_024490.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	968/1500	25940151	1,13005	2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25940151C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2903G>A	15.37:g.25940151C>T	ENSP00000349325:p.Arg968His						p.R968H	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	14	3009	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	968			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2903G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	7.061	0.566312	0.13560	2.27E-4	0.0	ENSG00000206190	ENST00000356865	D	0.82803	-1.65	4.91	0.572	0.17357	HAD-like domain (1);	0.558796	0.21761	N	0.069517	T	0.53690	0.1812	N	0.11673	0.155	0.26036	N	0.98168	P	0.37500	0.597	B	0.20767	0.031	T	0.50898	-0.8773	10	0.22706	T	0.39	-14.3147	3.2727	0.06888	0.0847:0.1489:0.3249:0.4415	.	968	O60312	AT10A_HUMAN	H	968	ENSP00000349325:R968H	ENSP00000349325:R968H	R	-	2	0	ATP10A	23491244	0.982000	0.34865	0.077000	0.20336	0.005000	0.04900	0.525000	0.22956	-0.039000	0.13602	-0.256000	0.11100	CGC		0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		10	66	0	0	0	0	10	66				
APBA2	321	broad.mit.edu	37	15	29406125	29406125	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:29406125G>T	ENST00000558402.1	+	15	2683	c.2084G>T	c.(2083-2085)cGt>cTt	p.R695L	APBA2_ENST00000411764.1_Missense_Mutation_p.R683L|APBA2_ENST00000558259.1_Missense_Mutation_p.R695L|APBA2_ENST00000558330.1_Missense_Mutation_p.R683L|APBA2_ENST00000561069.1_Missense_Mutation_p.R695L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	695	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGGGCGTCCGTGTGGGCCAC	0.627																																						uc001zck.2		NA																	0					0						c.(2083-2085)CGT>CTT		amyloid beta A4 precursor protein-binding,							103.0	83.0	90.0					15																	29406125		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29406125G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2084G>T	15.37:g.29406125G>T	ENSP00000453293:p.Arg695Leu					APBA2_uc010uat.1_Missense_Mutation_p.R683L|APBA2_uc001zcl.2_Missense_Mutation_p.R683L	p.R695L	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	13	2291	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	695			PDZ 2.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.2084G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293043	0.80914	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.60920	0.15	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);	0.081277	0.41097	D	0.000947	T	0.74114	0.3674	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.78314	0.991;0.979	T	0.75045	-0.3456	10	0.40728	T	0.16	.	16.319	0.82939	0.0:0.0:1.0:0.0	.	683;695	E9PGI4;Q99767	.;APBA2_HUMAN	L	683;695	ENSP00000409312:R683L	ENSP00000219865:R695L	R	+	2	0	APBA2	27193417	1.000000	0.71417	0.879000	0.34478	0.672000	0.39443	7.793000	0.85851	2.068000	0.61886	0.462000	0.41574	CGT		0.627	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		19	31	1	0	2.55e-18	4.2e-18	19	31				
NDUFAF1	51103	broad.mit.edu	37	15	41688684	41688684	+	Splice_Site	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:41688684C>A	ENST00000260361.4	-	2	955		c.e2+1			NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1						mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		GCCTCACCTACCCTTGGAATC	0.468																																						uc001znx.2		NA																	0				ovary(1)	1						c.e2+1		NADH dehydrogenase (ubiquinone) 1 alpha							57.0	56.0	56.0					15																	41688684		2203	4300	6503	SO:0001630	splice_region_variant	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41688684C>A	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.573+1G>T	15.37:g.41688684C>A						NDUFAF1_uc010bcf.2_Splice_Site	p.R191_splice	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	2	955	-		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)						Q9BVZ5	Splice_Site	SNP	ENST00000260361.4	37	c.573_splice	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151800	0.78001	.	.	ENSG00000137806	ENST00000260361	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3623	0.90379	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NDUFAF1	39475976	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	5.717000	0.68446	2.334000	0.79466	0.449000	0.29647	.		0.468	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013	Intron	19	34	1	0	1.68e-08	2.45e-08	19	34				
SPTBN5	51332	broad.mit.edu	37	15	42168381	42168381	+	Silent	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:42168381T>A	ENST00000320955.6	-	21	4280	c.4053A>T	c.(4051-4053)acA>acT	p.T1351T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1351					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCGCTTGAGTGTCTGCAGGA	0.637																																						uc001zos.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3946-3948)ACA>ACT		spectrin, beta, non-erythrocytic 5							50.0	55.0	53.0					15																	42168381		2153	4264	6417	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42168381T>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4053A>T	15.37:g.42168381T>A							p.T1316T	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	21	4281	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1351			Spectrin 10.			Silent	SNP	ENST00000320955.6	37	c.3948A>T																																																																																					0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		8	23	0	0	0	0	8	23				
STRC	161497	broad.mit.edu	37	15	43910166	43910166	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:43910166C>A	ENST00000450892.2	-	2	530	c.453G>T	c.(451-453)ggG>ggT	p.G151G	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	151					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)		p.G151G(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TAGGGGGGCCCCCAGGAACTA	0.637																																						uc001zsf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)GGG>GGT		stereocilin precursor							43.0	64.0	57.0					15																	43910166		2196	4296	6492	SO:0001819	synonymous_variant	161497				sensory perception of sound	cell surface		g.chr15:43910166C>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.453G>T	15.37:g.43910166C>A						STRC_uc010bdl.2_5'UTR|STRC_uc010udz.1_RNA|STRC_uc001zsg.1_Silent_p.G77G	p.G151G	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	2	531	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	151						Silent	SNP	ENST00000450892.2	37	c.453G>T	CCDS10098.1																																																																																				0.637	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		22	76	1	0	2.98e-07	4.3e-07	22	76				
UNC13C	440279	broad.mit.edu	37	15	54306698	54306698	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:54306698C>T	ENST00000260323.11	+	1	1598	c.1598C>T	c.(1597-1599)cCt>cTt	p.P533L	UNC13C_ENST00000537900.1_Missense_Mutation_p.P533L|UNC13C_ENST00000545554.1_Missense_Mutation_p.P533L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	533					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)		GATGCAACACCTCTCTGGCAC	0.358																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(1597-1599)CCT>CTT		unc-13 homolog C							59.0	59.0	59.0					15																	54306698		1859	4112	5971	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306698C>T	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.1598C>T	15.37:g.54306698C>T	ENSP00000260323:p.Pro533Leu						p.P533L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1598	+			533					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1598C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710474	0.48517	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80994	-1.44;-1.44;-1.44	5.01	5.01	0.66863	.	.	.	.	.	T	0.72120	0.3421	L	0.27053	0.805	0.49798	D	0.999821	P	0.49090	0.919	B	0.40165	0.321	T	0.78270	-0.2269	9	0.87932	D	0	.	17.4826	0.87677	0.0:1.0:0.0:0.0	.	533	Q8NB66	UN13C_HUMAN	L	533	ENSP00000260323:P533L;ENSP00000438156:P533L;ENSP00000442569:P533L	ENSP00000260323:P533L	P	+	2	0	UNC13C	52093990	0.971000	0.33674	0.978000	0.43139	0.997000	0.91878	5.611000	0.67674	2.608000	0.88229	0.655000	0.94253	CCT		0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		20	30	0	0	0	0	20	30				
TCF12	6938	broad.mit.edu	37	15	57574756	57574756	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:57574756G>A	ENST00000267811.5	+	19	2324	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	TCF12_ENST00000452095.2_Missense_Mutation_p.E694K|TCF12_ENST00000557843.1_Missense_Mutation_p.E674K|TCF12_ENST00000343827.3_Missense_Mutation_p.E504K|TCF12_ENST00000333725.5_Missense_Mutation_p.E698K|TCF12_ENST00000559703.1_Missense_Mutation_p.E331K|TCF12_ENST00000543579.1_Missense_Mutation_p.E528K|TCF12_ENST00000559710.1_Missense_Mutation_p.E308K|TCF12_ENST00000537840.1_Missense_Mutation_p.E438K|TCF12_ENST00000438423.2_Missense_Mutation_p.E698K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	674					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TGGGCTTAGTGAAACTACCAA	0.468			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.2		NA		Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma		0				central_nervous_system(5)|ovary(2)|lung(1)	8						c.(2020-2022)GAA>AAA		transcription factor 12 isoform b							138.0	137.0	137.0					15																	57574756		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57574756G>A	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.2020G>A	15.37:g.57574756G>A	ENSP00000267811:p.Glu674Lys					TCF12_uc010ugm.1_Intron|TCF12_uc010ugn.1_Missense_Mutation_p.E694K|TCF12_uc002aea.2_Missense_Mutation_p.E698K|TCF12_uc010bfs.2_Missense_Mutation_p.E95K|TCF12_uc002aeb.2_Missense_Mutation_p.E698K|TCF12_uc002aed.2_Missense_Mutation_p.E674K|TCF12_uc002aee.2_Missense_Mutation_p.E504K|TCF12_uc010bft.2_Missense_Mutation_p.E528K|TCF12_uc010ugo.1_Missense_Mutation_p.E438K|TCF12_uc010ugp.1_Missense_Mutation_p.E331K|TCF12_uc010ugq.1_Missense_Mutation_p.E308K	p.E674K	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	19	2304	+		Colorectal(260;0.0907)	674					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.2020G>A	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674676	0.67928	.	.	ENSG00000140262	ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.25250	2.41;2.4;2.4;2.4;2.16;1.81;2.16	5.72	5.72	0.89469	.	0.095813	0.64402	D	0.000001	T	0.39708	0.1088	N	0.24115	0.695	0.58432	D	0.999999	P;P;P;D;P;P;P;P	0.58268	0.608;0.9;0.835;0.982;0.897;0.59;0.608;0.59	B;B;B;D;B;B;B;B	0.67548	0.076;0.416;0.275;0.952;0.363;0.117;0.076;0.158	T	0.26224	-1.0109	10	0.72032	D	0.01	-7.8193	19.8788	0.96888	0.0:0.0:1.0:0.0	.	308;528;438;694;528;504;674;698	B4DZP2;B4DH96;B4E1W1;E9PGY0;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;HTF4_HUMAN;.	K	674;698;694;698;528;438;504;286	ENSP00000267811:E674K;ENSP00000388940:E698K;ENSP00000396881:E694K;ENSP00000331057:E698K;ENSP00000440017:E528K;ENSP00000444696:E438K;ENSP00000342459:E504K	ENSP00000267811:E674K	E	+	1	0	TCF12	55362048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.776000	0.99001	2.708000	0.92522	0.650000	0.86243	GAA		0.468	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		25	124	0	0	0	0	25	124				
CILP	8483	broad.mit.edu	37	15	65489842	65489842	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:65489842G>A	ENST00000261883.4	-	9	2948	c.2782C>T	c.(2782-2784)Ccc>Tcc	p.P928S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	928					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)		p.P928T(1)		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						TCGTTGAAGGGGACTGTGTTG	0.522																																						uc002aon.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(4)|pancreas(2)|skin(1)	7						c.(2782-2784)CCC>TCC		cartilage intermediate layer protein							134.0	121.0	125.0					15																	65489842		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489842G>A	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.2782C>T	15.37:g.65489842G>A	ENSP00000261883:p.Pro928Ser						p.P928S	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	2963	-			928					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.2782C>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651968	0.29336	.	.	ENSG00000138615	ENST00000261883	T	0.09630	2.96	5.91	5.91	0.95273	.	0.047074	0.85682	D	0.000000	T	0.12135	0.0295	L	0.50333	1.59	0.58432	D	0.999998	P	0.39809	0.689	B	0.37508	0.252	T	0.01863	-1.1258	10	0.41790	T	0.15	-18.4059	12.5706	0.56334	0.0749:0.0:0.9251:0.0	.	928	O75339	CILP1_HUMAN	S	928	ENSP00000261883:P928S	ENSP00000261883:P928S	P	-	1	0	CILP	63276895	1.000000	0.71417	0.996000	0.52242	0.299000	0.27559	6.834000	0.75339	2.793000	0.96121	0.655000	0.94253	CCC		0.522	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		35	64	0	0	0	0	35	64				
HCN4	10021	broad.mit.edu	37	15	73621967	73621967	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:73621967C>T	ENST00000261917.3	-	4	2530	c.1537G>A	c.(1537-1539)Gcc>Acc	p.A513T		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	513					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGGCAGTGGCGTGGCCAATG	0.652																																						uc002avp.2		NA																	0				ovary(5)|liver(1)	6						c.(1537-1539)GCC>ACC		hyperpolarization activated cyclic							87.0	76.0	80.0					15																	73621967		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73621967C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1537G>A	15.37:g.73621967C>T	ENSP00000261917:p.Ala513Thr						p.A513T	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	4	2531	-			513			Helical; Name=Segment S6; (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1537G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188633	0.94923	.	.	ENSG00000138622	ENST00000261917	D	0.97529	-4.42	4.31	4.31	0.51392	.	.	.	.	.	D	0.98175	0.9397	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99029	1.0820	9	0.59425	D	0.04	.	16.7901	0.85586	0.0:1.0:0.0:0.0	.	513	Q9Y3Q4	HCN4_HUMAN	T	513	ENSP00000261917:A513T	ENSP00000261917:A513T	A	-	1	0	HCN4	71409020	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.684000	0.84104	2.105000	0.64084	0.561000	0.74099	GCC		0.652	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		12	61	0	0	0	0	12	61				
C15orf59	388135	broad.mit.edu	37	15	74032915	74032915	+	Silent	SNP	C	C	T	rs559180260	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:74032915C>T	ENST00000569673.1	-	3	1429	c.225G>A	c.(223-225)acG>acA	p.T75T	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.T75T			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	75										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCACAGTGGCCGTGGTCCAGT	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		19979	0.002		0.0	False		,,,				2504	0.0					uc002avy.2		NA																	0				pancreas(1)	1						c.(223-225)ACG>ACA		hypothetical protein LOC388135							157.0	161.0	160.0					15																	74032915		2198	4297	6495	SO:0001819	synonymous_variant	388135							g.chr15:74032915C>T		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.225G>A	15.37:g.74032915C>T							p.T75T	NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN			2	570	-			75						Silent	SNP	ENST00000569673.1	37	c.225G>A	CCDS32289.1																																																																																				0.592	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		88	129	0	0	0	0	88	129				
SCAMP2	10066	broad.mit.edu	37	15	75142867	75142867	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:75142867T>C	ENST00000268099.9	-	6	729	c.620A>G	c.(619-621)tAt>tGt	p.Y207C		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	207	Interaction with SLC9A7.				post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AAAGGCCTTATAGATGGGTCG	0.562																																						uc002azb.1		NA																	0				ovary(1)	1						c.(619-621)TAT>TGT		secretory carrier membrane protein 2							149.0	150.0	149.0					15																	75142867		2197	4295	6492	SO:0001583	missense	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75142867T>C	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.620A>G	15.37:g.75142867T>C	ENSP00000268099:p.Tyr207Cys					SCAMP2_uc002aza.1_Missense_Mutation_p.Y57C|SCAMP2_uc010bkg.1_Intron	p.Y207C	NM_005697	NP_005688	O15127	SCAM2_HUMAN			6	694	-			207			Cytoplasmic (Potential).|Interaction with SLC9A7.		B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	c.620A>G	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189909	0.78789	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.55413	0.52	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83939	0.0310	10	0.87932	D	0	.	13.7663	0.62997	0.0:0.0:0.0:1.0	.	207;176	O15127;B3KU14	SCAM2_HUMAN;.	C	207;176	ENSP00000268099:Y207C	ENSP00000268099:Y207C	Y	-	2	0	SCAMP2	72929920	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.997000	0.88414	1.915000	0.55452	0.402000	0.26972	TAT		0.562	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		4	157	0	0	0	0	4	157				
HOMER2	9455	broad.mit.edu	37	15	83527813	83527813	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:83527813C>G	ENST00000304231.8	-	5	687	c.495G>C	c.(493-495)gaG>gaC	p.E165D	HOMER2_ENST00000426485.1_Missense_Mutation_p.E165D|HOMER2_ENST00000450735.2_Missense_Mutation_p.E154D|HOMER2_ENST00000399166.2_Missense_Mutation_p.E154D	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	165					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						GCTTGTCATTCTCAGACTTCA	0.507																																						uc002bjg.2		NA																	0					0						c.(493-495)GAG>GAC		homer 2 isoform 2							133.0	138.0	137.0					15																	83527813		2006	4167	6173	SO:0001583	missense	9455				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83527813C>G	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.495G>C	15.37:g.83527813C>G	ENSP00000305632:p.Glu165Asp					HOMER2_uc002bjh.2_Missense_Mutation_p.E154D|HOMER2_uc002bjj.2_Missense_Mutation_p.E154D|HOMER2_uc002bji.2_Missense_Mutation_p.E165D	p.E165D	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN			5	681	-			165			Potential.		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	ENST00000304231.8	37	c.495G>C	CCDS45334.1	.	.	.	.	.	.	.	.	.	.	c	17.15	3.315202	0.60524	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	T;T;T;T	0.78924	1.93;-1.22;2.12;2.21	5.92	5.01	0.66863	.	0.115953	0.64402	D	0.000011	T	0.78842	0.4347	M	0.69358	2.11	0.39819	D	0.97281	B;P;P;P	0.51791	0.135;0.948;0.933;0.948	B;P;B;P	0.45794	0.222;0.493;0.413;0.493	T	0.81642	-0.0840	10	0.51188	T	0.08	.	14.509	0.67772	0.0:0.93:0.0:0.0699	.	154;165;154;165	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	D	165;154;165;154	ENSP00000305632:E165D;ENSP00000407634:E154D;ENSP00000394293:E165D;ENSP00000382119:E154D	ENSP00000305632:E165D	E	-	3	2	HOMER2	81324867	1.000000	0.71417	0.997000	0.53966	0.571000	0.35966	2.435000	0.44811	1.522000	0.49001	-0.127000	0.14921	GAG		0.507	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			5	196	0	0	0	0	5	196				
AGBL1	123624	broad.mit.edu	37	15	86838537	86838537	+	Missense_Mutation	SNP	C	C	T	rs545196930		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:86838537C>T	ENST00000441037.2	+	16	2229	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000421325.2_Missense_Mutation_p.R712W|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.R443W	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	712					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R712R(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGTCTACTTCCGGCAAGATGT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		19103	0.0		0.0	False		,,,				2504	0.001					uc002blz.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2134-2136)CGG>TGG		ATP/GTP binding protein-like 1							73.0	72.0	72.0					15																	86838537		1947	4145	6092	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838537C>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2134C>T	15.37:g.86838537C>T	ENSP00000413001:p.Arg712Trp					AGBL1_uc002bma.1_Missense_Mutation_p.R443W|AGBL1_uc002bmb.1_Missense_Mutation_p.R406W	p.R712W	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			16	2214	+			712					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2134C>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868988	0.72065	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.12147	2.71;2.72	5.42	4.49	0.54785	.	0.433717	0.22221	N	0.062941	T	0.43567	0.1253	M	0.89095	3.005	0.36825	D	0.886579	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.984	T	0.60469	-0.7257	10	0.87932	D	0	-16.9275	13.5473	0.61711	0.1571:0.8429:0.0:0.0	.	411;443;712	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	W	741;712;443	ENSP00000397173:R712W;ENSP00000373949:R443W	ENSP00000373949:R443W	R	+	1	2	AGBL1	84639541	1.000000	0.71417	0.991000	0.47740	0.811000	0.45836	1.409000	0.34680	1.385000	0.46445	0.650000	0.86243	CGG		0.468	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		11	86	0	0	0	0	11	86				
CRTC3	64784	broad.mit.edu	37	15	91162992	91162992	+	Missense_Mutation	SNP	G	G	A	rs376110475		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:91162992G>A	ENST00000268184.6	+	9	723	c.719G>A	c.(718-720)cGc>cAc	p.R240H	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Missense_Mutation_p.R240H			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	240					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTGTCAGGACGCCCTCGATCC	0.443			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2		NA		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				salivary_gland(26)|ovary(1)	27						c.(718-720)CGC>CAC		transducer of regulated CREB protein 3 isoform		G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	175.0	166.0	169.0		719,719	4.7	1.0	15		169	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	CRTC3	NM_001042574.1,NM_022769.3	29,29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	240/619,240/620	91162992	1,12991	2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91162992G>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.719G>A	15.37:g.91162992G>A	ENSP00000268184:p.Arg240His					CRTC3_uc002bpo.2_Missense_Mutation_p.R240H	p.R240H	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		9	825	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		240					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.719G>A	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738703	0.89573	0.0	1.16E-4	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.52754	0.65;0.65	4.71	4.71	0.59529	Transducer of regulated CREB activity, middle domain (1);	0.111668	0.64402	D	0.000012	T	0.66015	0.2747	M	0.70595	2.14	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.68047	-0.5512	10	0.59425	D	0.04	-21.1076	13.3327	0.60497	0.0:0.0:1.0:0.0	.	240;240	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	H	204;240;240	ENSP00000268184:R240H;ENSP00000416573:R240H	ENSP00000268184:R240H	R	+	2	0	CRTC3	88963996	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.078000	0.71282	2.585000	0.87301	0.557000	0.71058	CGC		0.443	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		13	123	0	0	0	0	13	123				
IGF1R	3480	broad.mit.edu	37	15	99434760	99434760	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr15:99434760G>A	ENST00000268035.6	+	3	1458	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	IGF1R_ENST00000560432.1_3'UTR|RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.A283T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	283					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGACTTCTGCGCCAACATCCT	0.637																																						uc002bul.2		NA																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(847-849)GCC>ACC		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						77.0	63.0	68.0					15																	99434760		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99434760G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.847G>A	15.37:g.99434760G>A	ENSP00000268035:p.Ala283Thr					IGF1R_uc010urq.1_Missense_Mutation_p.A283T|IGF1R_uc010bon.2_Missense_Mutation_p.A283T	p.A283T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		3	897	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		283					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.847G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067755	0.36470	.	.	ENSG00000140443	ENST00000268035	D	0.97404	-4.37	4.87	3.88	0.44766	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.105638	0.39615	N	0.001316	D	0.95114	0.8417	M	0.67700	2.07	0.47276	D	0.999373	D;B	0.53151	0.958;0.057	B;B	0.41813	0.367;0.031	D	0.93408	0.6766	10	0.23891	T	0.37	.	12.8876	0.58053	0.0:0.0:0.7576:0.2424	.	283;283	C9J5X1;P08069	.;IGF1R_HUMAN	T	283	ENSP00000268035:A283T	ENSP00000268035:A283T	A	+	1	0	IGF1R	97252283	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	1.926000	0.40084	2.389000	0.81357	0.555000	0.69702	GCC		0.637	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		11	70	0	0	0	0	11	70				
ZNF646	9726	broad.mit.edu	37	16	31088376	31088376	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:31088376G>A	ENST00000394979.2	+	1	1154	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.C244Y|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	244					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)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTAGTCAGTGTGGCAAGACC	0.582																																						uc002eap.2		NA																	0				breast(2)	2						c.(730-732)TGT>TAT		zinc finger protein 646							73.0	68.0	69.0					16																	31088376		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31088376G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.731G>A	16.37:g.31088376G>A	ENSP00000378429:p.Cys244Tyr					ZNF668_uc002eao.2_5'Flank	p.C244Y	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	1020	+			244			C2H2-type 4.		Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.731G>A		.	.	.	.	.	.	.	.	.	.	G	22.1	4.241378	0.79912	.	.	ENSG00000167395	ENST00000300850;ENST00000394979;ENST00000439353	D;D	0.99974	-10.2;-10.2	5.6	5.6	0.85130	.	.	.	.	.	D	0.99981	0.9994	M	0.93328	3.405	0.58432	D	0.999996	D	0.76494	0.999	D	0.91635	0.999	D	0.97363	0.9971	9	0.87932	D	0	-9.2591	18.3906	0.90481	0.0:0.0:1.0:0.0	.	244	O15015-2	.	Y	244;244;9	ENSP00000300850:C244Y;ENSP00000378429:C244Y	ENSP00000300850:C244Y	C	+	2	0	ZNF646	30995877	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	9.220000	0.95180	2.640000	0.89533	0.655000	0.94253	TGT		0.582	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		6	46	0	0	0	0	6	46				
ITGAM	3684	broad.mit.edu	37	16	31308840	31308840	+	Silent	SNP	C	C	T	rs369936883		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:31308840C>T	ENST00000287497.8	+	13	1437	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	ITGAM_ENST00000544665.3_Silent_p.G454G			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	454					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCAGATCGGCGCCTACTTCG	0.582																																						uc002ebq.2		NA																	0				kidney(1)	1						c.(1360-1362)GGC>GGT		integrin alpha M isoform 2 precursor		C	,	1,4379	2.1+/-5.4	0,1,2189	119.0	130.0	126.0		1362,1362	1.8	1.0	16		126	0,8578		0,0,4289	no	coding-synonymous,coding-synonymous	ITGAM	NM_000632.3,NM_001145808.1	,	0,1,6478	TT,TC,CC		0.0,0.0228,0.0077	,	454/1153,454/1154	31308840	1,12957	2190	4289	6479	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308840C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1362C>T	16.37:g.31308840C>T						ITGAM_uc002ebr.2_Silent_p.G454G|ITGAM_uc010cam.1_Missense_Mutation_p.R58C|ITGAM_uc010can.2_5'UTR	p.G454G	NM_000632	NP_000623	P11215	ITAM_HUMAN			13	1460	+			454			FG-GAP 5.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1362C>T	CCDS45470.1																																																																																				0.582	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		27	168	0	0	0	0	27	168				
LONP2	83752	broad.mit.edu	37	16	48295405	48295405	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:48295405A>T	ENST00000285737.4	+	5	887	c.794A>T	c.(793-795)gAa>gTa	p.E265V	LONP2_ENST00000535754.1_Missense_Mutation_p.E221V	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GATGAAGATGAAGATAATGAT	0.353																																						uc002efi.1		NA																	0					0						c.(793-795)GAA>GTA		peroxisomal LON protease-like							151.0	150.0	150.0					16																	48295405		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48295405A>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.794A>T	16.37:g.48295405A>T	ENSP00000285737:p.Glu265Val					LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.E221V	p.E265V	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			5	883	+			265						Missense_Mutation	SNP	ENST00000285737.4	37	c.794A>T	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.905543	0.92107	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T	0.34275	1.37;1.39	5.88	5.88	0.94601	.	0.159786	0.56097	D	0.000024	T	0.48314	0.1493	M	0.81112	2.525	0.80722	D	1	P;P	0.49961	0.93;0.93	P;P	0.44860	0.462;0.462	T	0.56860	-0.7909	10	0.62326	D	0.03	-30.4383	16.2898	0.82742	1.0:0.0:0.0:0.0	.	221;265	B7ZKL7;Q86WA8	.;LONP2_HUMAN	V	265;221;221	ENSP00000285737:E265V;ENSP00000445426:E221V	ENSP00000285737:E265V	E	+	2	0	LONP2	46852906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.984000	0.88150	2.250000	0.74265	0.482000	0.46254	GAA		0.353	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		34	91	0	0	0	0	34	91				
FAM65A	79567	broad.mit.edu	37	16	67574374	67574374	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:67574374C>T	ENST00000379312.3	+	9	778	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Silent_p.F229F|FAM65A_ENST00000422602.2_Silent_p.F235F|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000042381.4_Silent_p.F215F|FAM65A_ENST00000540839.3_Silent_p.F235F|CTD-2012K14.2_ENST00000567122.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	219						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGGCTGGCTTCGCCAGGCTGT	0.592																																						uc010vjp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(703-705)TTC>TTT		hypothetical protein LOC79567							87.0	87.0	87.0					16																	67574374		2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67574374C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.657C>T	16.37:g.67574374C>T						FAM65A_uc010cei.1_Silent_p.F57F|FAM65A_uc002eth.2_Silent_p.F215F|FAM65A_uc010cej.2_Silent_p.F218F|FAM65A_uc002eti.1_Silent_p.F178F|FAM65A_uc010vjq.1_Silent_p.F229F|FAM65A_uc002etj.1_Silent_p.F214F|FAM65A_uc002etk.2_Silent_p.F214F	p.F235F	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	9	801	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	219					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.705C>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	8.564	0.878446	0.17395	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.33	-4.64	0.03349	.	.	.	.	.	T	0.64594	0.2612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64499	-0.6393	4	.	.	.	-17.3121	15.3901	0.74735	0.0:0.3031:0.0:0.6969	.	.	.	.	C	210	.	.	R	+	1	0	FAM65A	66131875	0.032000	0.19561	0.900000	0.35374	0.868000	0.49771	-0.803000	0.04540	-1.065000	0.03168	-1.164000	0.01763	CGC		0.592	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		16	60	0	0	0	0	16	60				
ZNRF1	84937	broad.mit.edu	37	16	75146544	75146544	+	IGR	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:75146544G>C	ENST00000335325.4	+	0	4620				LDHD_ENST00000450168.2_Silent_p.A415A|LDHD_ENST00000300051.4_Silent_p.A438A|RP11-252E2.1_ENST00000499110.1_RNA	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						CCAGTTCCTCGGCGTCATCAG	0.607																																						uc002fdm.2		NA																	0					0						c.(1312-1314)GCC>GCG		D-lactate dehydrogenase isoform 1 precursor							63.0	54.0	57.0					16																	75146544		2198	4300	6498	SO:0001628	intergenic_variant	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75146544G>C	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75146544G>C						LDHD_uc002fdn.2_Silent_p.A415A	p.A438A	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			10	1361	-			438					D3DUJ9|Q9H083	Silent	SNP	ENST00000335325.4	37	c.1314C>G	CCDS10912.1																																																																																				0.607	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			13	39	0	0	0	0	13	39				
ZZEF1	23140	broad.mit.edu	37	17	3966057	3966057	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:3966057C>T	ENST00000381638.2	-	30	4997	c.4873G>A	c.(4873-4875)Gat>Aat	p.D1625N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1625							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTGGTAAAATCTTTCTGACAG	0.413																																						uc002fxe.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(4873-4875)GAT>AAT		zinc finger, ZZ type with EF hand domain 1							34.0	34.0	34.0					17																	3966057		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3966057C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4873G>A	17.37:g.3966057C>T	ENSP00000371051:p.Asp1625Asn					ZZEF1_uc002fxh.2_5'UTR|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.D238N	p.D1625N	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			30	4937	-			1625					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4873G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349912	0.82132	.	.	ENSG00000074755	ENST00000381638	T	0.25749	1.78	5.55	5.55	0.83447	.	0.103999	0.64402	D	0.000005	T	0.42381	0.1200	L	0.50333	1.59	0.80722	D	1	P;P	0.51653	0.947;0.518	P;B	0.55303	0.773;0.196	T	0.22626	-1.0211	10	0.87932	D	0	-10.4932	19.518	0.95171	0.0:1.0:0.0:0.0	.	1625;1625	O43149-2;O43149	.;ZZEF1_HUMAN	N	1625	ENSP00000371051:D1625N	ENSP00000371051:D1625N	D	-	1	0	ZZEF1	3912806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.228000	0.78079	2.615000	0.88500	0.650000	0.86243	GAT		0.413	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	7	0	0	0	0	4	7				
TNK1	8711	broad.mit.edu	37	17	7290420	7290420	+	Silent	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7290420A>G	ENST00000576812.1	+	9	1728	c.1359A>G	c.(1357-1359)ccA>ccG	p.P453P	TNK1_ENST00000311668.2_Silent_p.P448P|TNK1_ENST00000570896.1_Silent_p.P448P	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCACCCGTCCAGTCCACAGAG	0.627																																						uc002ggi.3		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(1357-1359)CCA>CCG		tyrosine kinase, non-receptor, 1							24.0	25.0	25.0					17																	7290420		1915	4127	6042	SO:0001819	synonymous_variant	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7290420A>G	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1359A>G	17.37:g.7290420A>G						TNK1_uc002ggj.3_Silent_p.P448P|TNK1_uc010cmf.2_RNA|TNK1_uc002ggk.3_Silent_p.P50P	p.P453P	NM_003985	NP_003976	Q13470	TNK1_HUMAN			9	1519	+		Prostate(122;0.157)	453						Silent	SNP	ENST00000576812.1	37	c.1359A>G	CCDS58510.1																																																																																				0.627	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		8	21	0	0	0	0	8	21				
TP53	7157	broad.mit.edu	37	17	7576853	7576853	+	Splice_Site	SNP	C	C	A	rs11575996		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7576853C>A	ENST00000269305.4	-	9	1182	c.993G>T	c.(991-993)caG>caT	p.Q331H	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site_p.Q331H|TP53_ENST00000445888.2_Splice_Site_p.Q331H|TP53_ENST00000420246.2_Splice_Site_p.Q331H|TP53_ENST00000455263.2_Splice_Site_p.Q331H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACTTAGTACCTGAAGGGTGA	0.453		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		21	Substitution - Missense(9)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)|Substitution - coding silent(1)	p.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(1)	bone(4)|large_intestine(3)|lung(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|urinary_tract(1)|liver(1)|skin(1)|breast(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(991-993)CAG>CAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							115.0	108.0	110.0					17																	7576853		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576853C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.993+1G>T	17.37:g.7576853C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.Q331H|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Missense_Mutation_p.Q199H|TP53_uc010cng.1_Missense_Mutation_p.Q199H|TP53_uc002gii.1_Missense_Mutation_p.Q199H|TP53_uc010cnh.1_Missense_Mutation_p.Q331H|TP53_uc010cni.1_Missense_Mutation_p.Q331H|TP53_uc002gij.2_Missense_Mutation_p.Q331H	p.Q331H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1187	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	331		Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.993G>T	CCDS11118.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.16|15.16	2.749999|2.749999	0.49257|0.49257	.|.	.|.	ENSG00000141510|ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690|ENST00000419024	D;D;D;D;D;D|.	0.99771|.	-5.93;-3.18;-5.92;-5.91;-3.18;-6.71|.	4.95|4.95	4.95|4.95	0.65309|0.65309	p53, tetramerisation domain (3);|.	0.253251|.	0.40469|.	N|.	0.001098|.	T|T	0.59662|0.59662	0.2210|0.2210	L|L	0.45352|0.45352	1.415|1.415	0.41463|0.41463	D|D	0.988058|0.988058	B;B;B;B|.	0.24963|.	0.112;0.013;0.026;0.115|.	B;B;B;B|.	0.32762|.	0.152;0.012;0.052;0.072|.	T|T	0.56414|0.56414	-0.7983|-0.7983	9|5	.|.	.|.	.|.	-17.7352|-17.7352	13.5611|13.5611	0.61790|0.61790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331;331;331;331|.	P04637-2;P04637-3;P04637;Q1MSW8|.	.;.;P53_HUMAN;.|.	H|I	331;331;331;331;331;320;199|18	ENSP00000352610:Q331H;ENSP00000269305:Q331H;ENSP00000398846:Q331H;ENSP00000391127:Q331H;ENSP00000391478:Q331H;ENSP00000425104:Q199H|.	.|.	Q|S	-|-	3|2	2|0	TP53|TP53	7517578|7517578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.665000|0.665000	0.39181|0.39181	3.347000|3.347000	0.52200|0.52200	2.578000|2.578000	0.87016|0.87016	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.453	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	22	42	1	0	3.62e-10	5.48e-10	22	42				
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	rs587782329		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7577535C>A	ENST00000269305.4	-	7	935	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_ENST00000413465.2_Missense_Mutation_p.R249M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R249M|TP53_ENST00000445888.2_Missense_Mutation_p.R249M|TP53_ENST00000420246.2_Missense_Mutation_p.R249M|TP53_ENST00000455263.2_Missense_Mutation_p.R249M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249M(38)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGATGGGCCTCCGGTTCAT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		100	Substitution - Missense(74)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Unknown(5)	p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)	lung(22)|upper_aerodigestive_tract(12)|breast(8)|large_intestine(7)|liver(7)|stomach(6)|haematopoietic_and_lymphoid_tissue(5)|biliary_tract(5)|oesophagus(5)|skin(4)|bone(4)|central_nervous_system(3)|ovary(3)|adrenal_gland(2)|urinary_tract(2)|pancreas(2)|peritoneum(1)|soft_tissue(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(745-747)AGG>ATG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							154.0	113.0	127.0					17																	7577535		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577535C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.746G>T	17.37:g.7577535C>A	ENSP00000269305:p.Arg249Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.2_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M	p.R249M	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	940	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.746G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284101	0.80803	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.92367	3.3	0.52501	D	0.999959	P;D;P;P;D	0.89917	0.932;1.0;0.945;0.86;1.0	P;D;P;P;D	0.87578	0.622;0.998;0.795;0.453;0.991	D	0.96551	0.9408	10	0.87932	D	0	-3.0658	12.8645	0.57932	0.0:0.8349:0.1651:0.0	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	M	249;249;249;249;249;249;238;117	ENSP00000410739:R249M;ENSP00000352610:R249M;ENSP00000269305:R249M;ENSP00000398846:R249M;ENSP00000391127:R249M;ENSP00000391478:R249M;ENSP00000425104:R117M	ENSP00000269305:R249M	R	-	2	0	TP53	7518260	0.835000	0.29415	0.998000	0.56505	0.801000	0.45260	7.609000	0.82925	1.295000	0.44724	0.462000	0.41574	AGG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	31	1	0	1.85e-09	2.75e-09	22	31				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000420246.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGTTCATGCCGCCCATGCA	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)GGC>GAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577547C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>A	17.37:g.7577547C>T	ENSP00000269305:p.Gly245Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G245D|TP53_uc002gih.2_Missense_Mutation_p.G245D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113D|TP53_uc010cng.1_Missense_Mutation_p.G113D|TP53_uc002gii.1_Missense_Mutation_p.G113D|TP53_uc010cnh.1_Missense_Mutation_p.G245D|TP53_uc010cni.1_Missense_Mutation_p.G245D|TP53_uc002gij.2_Missense_Mutation_p.G245D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152D|TP53_uc002gio.2_Missense_Mutation_p.G113D	p.G245D	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	928	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.734G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	A	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	45	0	0	0	0	14	45				
DNAH2	146754	broad.mit.edu	37	17	7727960	7727960	+	Missense_Mutation	SNP	G	G	A	rs539312854		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7727960G>A	ENST00000572933.1	+	77	13228	c.11768G>A	c.(11767-11769)cGc>cAc	p.R3923H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3923H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3923	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATCCTTCCGCCTCTGGCTC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17519	0.0		0.0	False		,,,				2504	0.001					uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(11767-11769)CGC>CAC		dynein heavy chain domain 3							138.0	114.0	122.0					17																	7727960		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7727960G>A	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.11768G>A	17.37:g.7727960G>A	ENSP00000458355:p.Arg3923His					DNAH2_uc010cnm.1_Missense_Mutation_p.R861H	p.R3923H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			76	11782	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3923			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11768G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743516	0.89663	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.33438	1.41	4.41	4.41	0.53225	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.74558	0.3732	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.955;0.973	D	0.87460	0.2407	10	0.87932	D	0	.	15.9206	0.79562	0.0:0.0:1.0:0.0	.	3884;3923	Q9P225-2;Q9P225	.;DYH2_HUMAN	H	3884;3923	ENSP00000373825:R3923H	ENSP00000353818:R3884H	R	+	2	0	DNAH2	7668685	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.110000	0.94302	2.292000	0.77174	0.505000	0.49811	CGC		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		10	78	0	0	0	0	10	78				
GUCY2D	3000	broad.mit.edu	37	17	7918083	7918083	+	Splice_Site	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:7918083G>T	ENST00000254854.4	+	13	2726		c.e13+1			NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)						intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				TGCTGCCTCCGTGGGTGCCAG	0.627																																						uc002gjt.2		NA																	0				skin(1)	1						c.e13+1		guanylate cyclase 2D, membrane (retina-specific)							26.0	28.0	27.0					17																	7918083		2203	4300	6503	SO:0001630	splice_region_variant	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7918083G>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2576+1G>T	17.37:g.7918083G>T							p.P859_splice	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			13	2650	+		Prostate(122;0.157)						Q6LEA7	Splice_Site	SNP	ENST00000254854.4	37	c.2576_splice	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506792	0.85282	.	.	ENSG00000132518	ENST00000254854	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8939	0.88880	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUCY2D	7858808	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.483000	0.97937	2.828000	0.97474	0.655000	0.94253	.		0.627	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2		Intron	9	17	1	0	3.1e-07	4.45e-07	9	17				
NCOR1	9611	broad.mit.edu	37	17	15942772	15942772	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:15942772C>G	ENST00000268712.3	-	44	7187	c.6930G>C	c.(6928-6930)gaG>gaC	p.E2310D	NCOR1_ENST00000395851.1_Missense_Mutation_p.E2207D|AC002553.1_ENST00000442828.1_5'Flank|NCOR1_ENST00000395857.3_Missense_Mutation_p.E894D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2310	Interaction with C1D. {ECO:0000250}.				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)		GGTCCCCTTCCTCTCTTCGTG	0.468																																						uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(6928-6930)GAG>GAC		nuclear receptor co-repressor 1							148.0	105.0	120.0					17																	15942772		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.chr17:15942772C>G	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.6930G>C	17.37:g.15942772C>G	ENSP00000268712:p.Glu2310Asp					NCOR1_uc002gpn.2_Missense_Mutation_p.E2207D|NCOR1_uc002gpl.2_Missense_Mutation_p.E325D|NCOR1_uc002gpm.2_Missense_Mutation_p.E830D|NCOR1_uc010vwb.1_Missense_Mutation_p.E894D|NCOR1_uc010coy.2_Missense_Mutation_p.E1218D	p.E2310D	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	44	7170	-			2310			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.6930G>C	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	6.486	0.457797	0.12342	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.42131	1.01;1.56;0.98	5.61	1.27	0.21489	.	0.094140	0.64402	N	0.000001	T	0.23289	0.0563	N	0.20401	0.57	0.37202	D	0.904442	B;B;P;B;B	0.38729	0.001;0.001;0.644;0.004;0.013	B;B;B;B;B	0.43623	0.001;0.002;0.425;0.007;0.021	T	0.24083	-1.0170	10	0.06625	T	0.88	-2.4779	4.6141	0.12417	0.1718:0.4189:0.0:0.4093	.	2214;2310;2207;830;324	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	D	2310;2207;2214;894	ENSP00000268712:E2310D;ENSP00000379192:E2207D;ENSP00000379198:E894D	ENSP00000268712:E2310D	E	-	3	2	NCOR1	15883497	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	0.365000	0.20348	0.259000	0.21709	-0.140000	0.14226	GAG		0.468	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		10	35	0	0	0	0	10	35				
ZNF624	57547	broad.mit.edu	37	17	16550702	16550702	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:16550702C>G	ENST00000311331.7	-	3	185	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGGGTAACTTCAGGGCTCTGA	0.428																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(94-96)GAA>CAA		zinc finger protein 624							167.0	143.0	151.0					17																	16550702		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16550702C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.94G>C	17.37:g.16550702C>G	ENSP00000310472:p.Glu32Gln						p.E32Q	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	3	177	-			32					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.94G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	4.199	0.035704	0.08148	.	.	ENSG00000197566	ENST00000311331;ENST00000423860	T;T	0.05081	3.5;5.32	2.46	1.45	0.22620	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.19300	N	0.99997	B	0.09022	0.002	B	0.06405	0.002	T	0.48210	-0.9055	9	0.12766	T	0.61	.	7.0911	0.25285	0.0:0.7174:0.2826:0.0	.	32	Q9P2J8	ZN624_HUMAN	Q	32	ENSP00000310472:E32Q;ENSP00000406525:E32Q	ENSP00000310472:E32Q	E	-	1	0	ZNF624	16491427	0.997000	0.39634	0.901000	0.35422	0.523000	0.34469	1.066000	0.30604	0.593000	0.29745	0.655000	0.94253	GAA		0.428	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		37	50	0	0	0	0	37	50				
MED24	9862	broad.mit.edu	37	17	38189629	38189629	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:38189629G>T	ENST00000394128.2	-	7	721	c.640C>A	c.(640-642)Cag>Aag	p.Q214K	MED24_ENST00000394127.2_Missense_Mutation_p.Q201K|MED24_ENST00000356271.3_Missense_Mutation_p.Q201K|MED24_ENST00000501516.3_Missense_Mutation_p.Q233K|MED24_ENST00000394126.1_Missense_Mutation_p.Q239K|MED24_ENST00000479829.1_5'Flank	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	214					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGCTCGGCCTGACTCCGGAGC	0.592																																						uc002htt.2		NA																	0				ovary(1)	1						c.(640-642)CAG>AAG		mediator complex subunit 24 isoform 1							44.0	40.0	41.0					17																	38189629		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38189629G>T	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.640C>A	17.37:g.38189629G>T	ENSP00000377686:p.Gln214Lys					MED24_uc010wes.1_Missense_Mutation_p.Q74K|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.Q239K|MED24_uc002htu.2_Missense_Mutation_p.Q201K|MED24_uc010cwn.2_Missense_Mutation_p.Q201K|MED24_uc010weu.1_Missense_Mutation_p.Q124K|MED24_uc010wev.1_Missense_Mutation_p.Q164K|MED24_uc010wew.1_Missense_Mutation_p.Q143K|MED24_uc010wex.1_Intron|MED24_uc010wez.1_Missense_Mutation_p.Q55K|MED24_uc010wfa.1_Missense_Mutation_p.Q183K|MED24_uc010wfb.1_Missense_Mutation_p.Q226K|MED24_uc010wfc.1_Missense_Mutation_p.Q170K	p.Q214K	NM_014815	NP_055630	O75448	MED24_HUMAN			7	953	-	Colorectal(19;0.000442)		214					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.640C>A	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811479	0.50527	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000543759;ENST00000535508;ENST00000431269;ENST00000428757	T;T;T	0.44083	0.93;0.93;0.93	5.67	5.67	0.87782	Mediator complex, subunit Med24, N-terminal (1);	0.174504	0.51477	D	0.000091	T	0.44623	0.1302	N	0.15975	0.35	0.51233	D	0.999911	B;B;B;B;B;P;P;P;P	0.52577	0.092;0.003;0.145;0.015;0.119;0.954;0.73;0.771;0.917	B;B;B;B;B;D;P;P;D	0.67900	0.03;0.005;0.159;0.038;0.099;0.954;0.448;0.584;0.915	T	0.15809	-1.0424	10	0.07030	T	0.85	-23.4623	18.5445	0.91042	0.0:0.0:1.0:0.0	.	188;201;164;143;164;124;201;214;156	B9TX63;B9TX65;B4DV99;B4DDR8;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;.;.;.;MED24_HUMAN;.	K	214;214;214;164;201;156;188;188;124;233	ENSP00000377686:Q214K;ENSP00000443344:Q164K;ENSP00000377685:Q201K	ENSP00000348610:Q214K	Q	-	1	0	MED24	35443155	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	1.943000	0.40253	2.677000	0.91161	0.655000	0.94253	CAG		0.592	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		10	3	1	0	9.7e-10	1.45e-09	10	3				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262084	39262084	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:39262084C>G	ENST00000391415.1	+	1	501	c.444C>G	c.(442-444)aaC>aaG	p.N148K		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	148	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gccagcccaactgctgccgcc	0.672																																						uc010wfp.1		NA																	0					0						c.(442-444)AAC>AAG		keratin associated protein 4-9							5.0	8.0	7.0					17																	39262084		673	1552	2225	SO:0001583	missense	100132386					keratin filament		g.chr17:39262084C>G	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.444C>G	17.37:g.39262084C>G	ENSP00000375234:p.Asn148Lys						p.N148K	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			1	444	+			148			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].|24.			Missense_Mutation	SNP	ENST00000391415.1	37	c.444C>G	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.873569	0.33069	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00570	6.51	2.83	0.602	0.17535	.	8.212230	0.00901	U	0.002346	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45818	-0.9235	10	0.54805	T	0.06	.	4.2626	0.10747	0.0:0.617:0.2362:0.1467	.	148	Q9BYQ8	KRA49_HUMAN	K	136;148;139	ENSP00000375234:N148K	ENSP00000334461:N139K	N	+	3	2	KRTAP4-9	36515610	0.280000	0.24249	0.018000	0.16275	0.570000	0.35934	1.043000	0.30316	-0.083000	0.12618	0.306000	0.20318	AAC		0.672	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		9	13	0	0	0	0	9	13				
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19121	0.001		0.0	False		,,,				2504	0.0					uc002hwy.2		NA																	3	Substitution - Missense(3)		prostate(1)|kidney(1)|central_nervous_system(1)		0						c.(613-615)GTT>ATT		keratin 15		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75.0	75.0	75.0		613	2.7	1.0	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673185C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile					KRT15_uc002hwz.2_Missense_Mutation_p.V107I|KRT15_uc002hxa.2_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	p.V205I	NM_002275	NP_002266	P19012	K1C15_HUMAN			3	804	-		Breast(137;0.000286)	205			Rod.|Coil 1B.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.613G>A	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		19	65	0	0	0	0	19	65				
HSD17B1	3292	broad.mit.edu	37	17	40705593	40705593	+	Silent	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:40705593T>C	ENST00000585807.1	+	3	4122	c.402T>C	c.(400-402)ggT>ggC	p.G134G	RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Silent_p.G134G|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	134					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	AGAGGCGCGGTTCGGGACGCG	0.637																																						uc002hzw.2		NA																	0					0						c.(400-402)GGT>GGC		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						67.0	65.0	66.0					17																	40705593		2203	4300	6503	SO:0001819	synonymous_variant	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40705593T>C		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.402T>C	17.37:g.40705593T>C						HSD17B1_uc002hzx.2_Silent_p.G134G|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_5'UTR|HSD17B1_uc010cyi.2_Silent_p.G165G	p.G134G	NM_000413	NP_000404	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	3	1370	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	134					B3KXS1|Q2M2L8	Silent	SNP	ENST00000585807.1	37	c.402T>C	CCDS11428.1																																																																																				0.637	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		21	42	0	0	0	0	21	42				
MED13	9969	broad.mit.edu	37	17	60040139	60040139	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:60040139G>T	ENST00000397786.2	-	21	5114	c.5038C>A	c.(5038-5040)Cat>Aat	p.H1680N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1680					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCTTGATATGAGGAGGAAGA	0.368																																						uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(5038-5040)CAT>AAT		mediator complex subunit 13							160.0	151.0	154.0					17																	60040139		1872	4098	5970	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60040139G>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5038C>A	17.37:g.60040139G>T	ENSP00000380888:p.His1680Asn						p.H1680N	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			21	5115	-			1680					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.5038C>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	5.690	0.311837	0.10789	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82344	-1.6	5.05	2.82	0.32997	.	0.096090	0.64402	D	0.000001	T	0.70037	0.3178	N	0.25647	0.755	0.53005	D	0.999967	B	0.06786	0.001	B	0.11329	0.006	T	0.63079	-0.6717	10	0.09084	T	0.74	-28.3238	14.1405	0.65316	0.0:0.0:0.6924:0.3076	.	1680	Q9UHV7	MED13_HUMAN	N	1680;1679	ENSP00000380888:H1680N	ENSP00000262436:H1679N	H	-	1	0	MED13	57394921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.836000	0.48183	2.340000	0.79590	0.563000	0.77884	CAT		0.368	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		36	89	1	0	1.3e-30	2.25e-30	36	89				
SCN4A	6329	broad.mit.edu	37	17	62021165	62021165	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:62021165A>T	ENST00000435607.1	-	22	4034	c.3958T>A	c.(3958-3960)Tat>Aat	p.Y1320N	SCN4A_ENST00000578147.1_Missense_Mutation_p.Y1320N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1320					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGCGTTATAGTATTTCTTC	0.547																																						uc002jds.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3958-3960)TAT>AAT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						97.0	98.0	98.0					17																	62021165		2157	4295	6452	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62021165A>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3958T>A	17.37:g.62021165A>T	ENSP00000396320:p.Tyr1320Asn						p.Y1320N	NM_000334	NP_000325	P35499	SCN4A_HUMAN			22	4035	-			1320					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3958T>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590724	0.66219	.	.	ENSG00000007314	ENST00000435607	D	0.96522	-4.04	3.38	3.38	0.38709	.	0.000000	0.85682	D	0.000000	D	0.98658	0.9550	H	0.98155	4.16	0.51233	D	0.999917	D	0.89917	1.0	D	0.73708	0.981	D	0.98718	1.0707	10	0.87932	D	0	.	11.4387	0.50083	1.0:0.0:0.0:0.0	.	1320	P35499	SCN4A_HUMAN	N	1320	ENSP00000396320:Y1320N	ENSP00000396320:Y1320N	Y	-	1	0	SCN4A	59374897	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	9.078000	0.94023	1.552000	0.49463	0.368000	0.22195	TAT		0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		13	19	0	0	0	0	13	19				
ERN1	2081	broad.mit.edu	37	17	62135335	62135335	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:62135335G>C	ENST00000433197.3	-	12	1320	c.1225C>G	c.(1225-1227)Cag>Gag	p.Q409E		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCTGAAGTCTGGTCAACCAGG	0.552																																						uc002jdz.2		NA																	0				central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						c.(1225-1227)CAG>GAG		endoplasmic reticulum to nucleus signalling 1							44.0	47.0	46.0					17																	62135335		2015	4167	6182	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62135335G>C	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1225C>G	17.37:g.62135335G>C	ENSP00000401445:p.Gln409Glu						p.Q409E	NM_001433	NP_001424	O75460	ERN1_HUMAN			12	1338	-			409			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000433197.3	37	c.1225C>G	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	1.557	-0.537583	0.04082	.	.	ENSG00000178607	ENST00000433197	T	0.58060	0.36	5.37	4.33	0.51752	.	0.344672	0.29806	N	0.011155	T	0.23370	0.0565	N	0.04203	-0.255	0.23356	N	0.997843	B	0.02656	0.0	B	0.01281	0.0	T	0.20940	-1.0260	10	0.02654	T	1	-18.9973	9.0805	0.36550	0.0:0.3222:0.5484:0.1293	.	409	O75460	ERN1_HUMAN	E	409	ENSP00000401445:Q409E	ENSP00000401445:Q409E	Q	-	1	0	ERN1	59489067	0.999000	0.42202	1.000000	0.80357	0.831000	0.47069	2.267000	0.43329	2.509000	0.84616	0.561000	0.74099	CAG		0.552	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		5	6	0	0	0	0	5	6				
NUP85	79902	broad.mit.edu	37	17	73214330	73214330	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:73214330G>A	ENST00000245544.4	+	7	597	c.526G>A	c.(526-528)Gag>Aag	p.E176K	NUP85_ENST00000579324.1_Missense_Mutation_p.E64K|NUP85_ENST00000579298.1_Missense_Mutation_p.E176K|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000447371.2_Intron|NUP85_ENST00000541827.1_Missense_Mutation_p.E130K	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	176					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCATGTGTGCGAGGTGGACAG	0.572																																						uc002jng.1		NA																	0				ovary(1)	1						c.(526-528)GAG>AAG		nucleoporin 85							142.0	120.0	127.0					17																	73214330		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73214330G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.526G>A	17.37:g.73214330G>A	ENSP00000245544:p.Glu176Lys					NUP85_uc010dgd.1_Missense_Mutation_p.E176K|NUP85_uc010wrv.1_Missense_Mutation_p.E130K	p.E176K	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		7	786	+	all_lung(278;0.14)|Lung NSC(278;0.168)		176					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.526G>A	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781699	0.70222	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421	.	.	.	5.85	5.85	0.93711	.	0.088373	0.85682	D	0.000000	T	0.45034	0.1322	L	0.43152	1.355	0.80722	D	1	P;P	0.50443	0.726;0.935	B;B	0.38655	0.203;0.278	T	0.36553	-0.9743	9	0.13470	T	0.59	-25.399	20.1653	0.98150	0.0:0.0:1.0:0.0	.	130;176	B4DMQ3;Q9BW27	.;NUP85_HUMAN	K	176;130;130	.	ENSP00000245544:E176K	E	+	1	0	NUP85	70725925	1.000000	0.71417	0.979000	0.43373	0.952000	0.60782	9.334000	0.96470	2.768000	0.95171	0.655000	0.94253	GAG		0.572	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		7	64	0	0	0	0	7	64				
CANT1	124583	broad.mit.edu	37	17	76993210	76993211	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:76993210_76993211CA>AT	ENST00000302345.2	-	2	988_989	c.494_495TG>AT	c.(493-495)aTG>aAT	p.M165N	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000392446.5_Missense_Mutation_p.M165N|CANT1_ENST00000591773.1_Missense_Mutation_p.M165N	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	165			M -> T (in DBQD1; severely affects activity). {ECO:0000269|PubMed:21037275}.		positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CGGATAGCTCCATGCCTCTCCC	0.599			T	ETV4	prostate																																	uc002jwn.2		NA		Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate		0					0						c.(493-495)ATG>AAT		calcium activated nucleotidase 1																																				SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993210_76993211CA>AT	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.494_495delinsAT	17.37:g.76993210_76993211delinsAT	ENSP00000307674:p.Met165Asn					CANT1_uc002jwk.2_Missense_Mutation_p.M165N|CANT1_uc002jwj.2_Missense_Mutation_p.M165N|CANT1_uc002jwl.2_RNA|CANT1_uc002jwm.1_5'Flank	p.M165N	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		4	933_934	-			165			Lumenal (Potential).		B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	DNP	ENST00000302345.2	37	c.494_495TG>AT	CCDS11760.1																																																																																				0.599	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		39	97	0	0	0	0	39	97				
EPB41L3	23136	broad.mit.edu	37	18	5416002	5416002	+	Missense_Mutation	SNP	G	G	A	rs150101312		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:5416002G>A	ENST00000341928.2	-	13	2222	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	EPB41L3_ENST00000342933.3_Missense_Mutation_p.R628C|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	628	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GACGGTGAGCGGATCGGGAGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21615	0.001		0.0	False		,,,				2504	0.0					uc002kmt.1		NA																	0				ovary(5)	5						c.(1882-1884)CGC>TGC		erythrocyte membrane protein band 4.1-like 3		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	210.0	146.0	167.0		1882	5.4	1.0	18	dbSNP_134	167	0,8600		0,0,4300	no	missense	EPB41L3	NM_012307.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	628/1088	5416002	2,13004	2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5416002G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1882C>T	18.37:g.5416002G>A	ENSP00000343158:p.Arg628Cys					EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	p.R628C	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			13	1968	-			628			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1882C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249056	0.80024	4.54E-4	0.0	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82255	-1.59;-1.59	5.37	5.37	0.77165	.	0.209968	0.39341	N	0.001389	D	0.89691	0.6788	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	P	0.62184	0.899	D	0.90481	0.4460	10	0.72032	D	0.01	.	19.1172	0.93346	0.0:0.0:1.0:0.0	.	628	Q9Y2J2	E41L3_HUMAN	C	628	ENSP00000343158:R628C;ENSP00000341138:R628C	ENSP00000343158:R628C	R	-	1	0	EPB41L3	5406002	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.058000	0.71126	2.509000	0.84616	0.563000	0.77884	CGC		0.537	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		10	89	0	0	0	0	10	89				
MC5R	4161	broad.mit.edu	37	18	13826521	13826521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:13826521C>T	ENST00000324750.3	+	1	979	c.757C>T	c.(757-759)Ccg>Tcg	p.P253S	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	253					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTGCTGGGCCCCGTTCTTCCT	0.577																																						uc010xaf.1		NA																	0				ovary(3)|lung(2)|breast(1)	6						c.(757-759)CCG>TCG		melanocortin 5 receptor							229.0	179.0	196.0					18																	13826521		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826521C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.757C>T	18.37:g.13826521C>T	ENSP00000318077:p.Pro253Ser						p.P253S	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	757	+			253			Helical; Name=6; (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.757C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973750	0.53720	.	.	ENSG00000176136	ENST00000324750	T	0.80304	-1.36	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93939	0.8060	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96487	0.9361	10	0.87932	D	0	.	17.0064	0.86394	0.0:1.0:0.0:0.0	.	253	P33032	MC5R_HUMAN	S	253	ENSP00000318077:P253S	ENSP00000318077:P253S	P	+	1	0	MC5R	13816521	1.000000	0.71417	0.892000	0.35008	0.021000	0.10359	7.423000	0.80229	2.246000	0.74042	0.305000	0.20034	CCG		0.577	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		50	64	0	0	0	0	50	64				
CDH2	1000	broad.mit.edu	37	18	25572629	25572629	+	Missense_Mutation	SNP	G	G	C	rs200033452		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:25572629G>C	ENST00000269141.3	-	9	1757	c.1334C>G	c.(1333-1335)aCc>aGc	p.T445S	CDH2_ENST00000399380.3_Missense_Mutation_p.T414S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	445	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGACCACGGTGACTAACCC	0.522																																						uc002kwg.2		NA																	0				ovary(3)|lung(1)	4						c.(1333-1335)ACC>AGC		cadherin 2, type 1 preproprotein							158.0	133.0	141.0					18																	25572629		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25572629G>C	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1334C>G	18.37:g.25572629G>C	ENSP00000269141:p.Thr445Ser					CDH2_uc010xbn.1_Missense_Mutation_p.T414S	p.T445S	NM_001792	NP_001783	P19022	CADH2_HUMAN			9	1793	-			445			Extracellular (Potential).|Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1334C>G	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604475	0.87157	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.49720	0.77;0.77	5.54	5.54	0.83059	Cadherin (5);Cadherin-like (1);	0.046757	0.85682	D	0.000000	T	0.64972	0.2647	L	0.49350	1.555	0.80722	D	1	P;D	0.89917	0.936;1.0	P;D	0.87578	0.813;0.998	T	0.58725	-0.7586	10	0.33940	T	0.23	.	19.8453	0.96705	0.0:0.0:1.0:0.0	.	414;445	A8MWK3;P19022	.;CADH2_HUMAN	S	445;414	ENSP00000269141:T445S;ENSP00000382312:T414S	ENSP00000269141:T445S	T	-	2	0	CDH2	23826627	1.000000	0.71417	0.996000	0.52242	0.790000	0.44656	9.809000	0.99208	2.754000	0.94517	0.655000	0.94253	ACC		0.522	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		26	57	0	0	0	0	26	57				
TPGS2	25941	broad.mit.edu	37	18	34376776	34376776	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:34376776G>A	ENST00000334295.4	-	7	1322	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	TPGS2_ENST00000590652.1_Intron|TPGS2_ENST00000593035.1_Missense_Mutation_p.R264W|TPGS2_ENST00000383056.3_Missense_Mutation_p.R256W|TPGS2_ENST00000590842.1_Intron|TPGS2_ENST00000587129.1_Intron	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	299						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCTCACTTCCGGGTGGGGTTT	0.617																																						uc002kzw.1		NA																	0				skin(1)	1						c.(895-897)CGG>TGG		tubulin polyglutamylase complex subunit 2							55.0	53.0	53.0					18																	34376776		2203	4300	6503	SO:0001583	missense	25941					cytoplasm|microtubule		g.chr18:34376776G>A	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.895C>T	18.37:g.34376776G>A	ENSP00000335144:p.Arg299Trp					C18orf10_uc002kzv.1_Intron|C18orf10_uc010xci.1_Missense_Mutation_p.R264W|C18orf10_uc002kzx.1_Missense_Mutation_p.R256W	p.R299W	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN			7	1323	-			299					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Missense_Mutation	SNP	ENST00000334295.4	37	c.895C>T	CCDS32817.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124396	0.37533	.	.	ENSG00000134779	ENST00000334295;ENST00000383056	T;T	0.54071	0.62;0.59	5.61	2.66	0.31614	.	0.210126	0.46442	D	0.000293	T	0.33147	0.0853	N	0.19112	0.55	0.80722	D	1	B;B;B	0.31640	0.333;0.333;0.333	B;B;B	0.25506	0.042;0.042;0.061	T	0.23226	-1.0194	10	0.87932	D	0	-5.887	9.2218	0.37382	0.0733:0.0:0.5796:0.3471	.	264;256;299	B4DIX2;Q68CL5-1;Q68CL5	.;.;TPGS2_HUMAN	W	299;256	ENSP00000335144:R299W;ENSP00000372530:R256W	ENSP00000335144:R299W	R	-	1	2	C18orf10	32630774	0.090000	0.21635	0.837000	0.33122	0.313000	0.28021	0.440000	0.21592	0.827000	0.34685	0.655000	0.94253	CGG		0.617	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2	NM_015476		11	98	0	0	0	0	11	98				
SETBP1	26040	broad.mit.edu	37	18	42531907	42531907	+	Missense_Mutation	SNP	G	G	T	rs267607042		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:42531907G>T	ENST00000282030.5	+	4	2898	c.2602G>T	c.(2602-2604)Gac>Tac	p.D868Y		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	868			D -> A (in SGMFS). {ECO:0000269|PubMed:20436468}.|D -> G (in myeloid malignancies). {ECO:0000269|PubMed:23628959}.|D -> N (in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation). {ECO:0000269|PubMed:20436468, ECO:0000269|PubMed:23222956, ECO:0000269|PubMed:23628959, ECO:0000269|PubMed:23648668, ECO:0000269|PubMed:23832011, ECO:0000269|PubMed:23832012}.|D -> Y (in myeloid malignancies). {ECO:0000269|PubMed:23628959, ECO:0000269|PubMed:23832012}.			nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATCCCCAGCGACAGCGGCAT	0.552									Schinzel-Giedion syndrome																													uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(2602-2604)GAC>TAC		SET binding protein 1 isoform a							71.0	46.0	54.0					18																	42531907		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531907G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2602G>T	18.37:g.42531907G>T	ENSP00000282030:p.Asp868Tyr						p.D868Y	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2898	+			868		D -> N (in SGMFS).|D -> A (in SGMFS).			A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2602G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495560	0.64186	.	.	ENSG00000152217	ENST00000282030	D	0.93247	-3.19	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95211	0.8447	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.95183	0.8301	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	868	Q9Y6X0	SETBP_HUMAN	Y	868	ENSP00000282030:D868Y	ENSP00000282030:D868Y	D	+	1	0	SETBP1	40785905	1.000000	0.71417	0.995000	0.50966	0.905000	0.53344	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GAC		0.552	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		39	22	1	0	7.53e-24	1.29e-23	39	22				
ZNF236	7776	broad.mit.edu	37	18	74625839	74625839	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr18:74625839G>A	ENST00000253159.8	+	18	3238	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E1016K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1014					cellular response to glucose stimulus (GO:0071333)|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)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGTCCCACGAGAAGACACA	0.483																																						uc002lmi.2		NA																	0				ovary(4)	4						c.(3040-3042)GAG>AAG		zinc finger protein 236							83.0	89.0	87.0					18																	74625839		1939	4135	6074	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74625839G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3040G>A	18.37:g.74625839G>A	ENSP00000253159:p.Glu1014Lys					ZNF236_uc002lmj.2_RNA	p.E1014K	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	18	3238	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1014			C2H2-type 19.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3040G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282019	0.40394	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.24538	1.85;1.85	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.160038	0.44483	D	0.000454	T	0.23330	0.0564	N	0.05554	-0.025	0.41256	D	0.986746	D	0.67145	0.996	P	0.58331	0.837	T	0.02477	-1.1153	10	0.02654	T	1	.	18.2767	0.90085	0.0:0.0:1.0:0.0	.	1014	Q9UL36	ZN236_HUMAN	K	1014	ENSP00000253159:E1014K;ENSP00000444524:E1014K	ENSP00000253159:E1014K	E	+	1	0	ZNF236	72754827	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	4.134000	0.57990	2.317000	0.78254	0.462000	0.41574	GAG		0.483	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			21	26	0	0	0	0	21	26				
DOT1L	84444	broad.mit.edu	37	19	2216357	2216357	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:2216357C>T	ENST00000398665.3	+	20	2037	c.2001C>T	c.(1999-2001)gaC>gaT	p.D667D	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	667					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTGACGACGCCCTGTCCC	0.657																																						uc002lvb.3		NA																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1999-2001)GAC>GAT		DOT1-like, histone H3 methyltransferase							29.0	33.0	32.0					19																	2216357		2033	4174	6207	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216357C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2001C>T	19.37:g.2216357C>T						DOT1L_uc002lvc.1_Translation_Start_Site|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Translation_Start_Site	p.D667D	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2037	+		Hepatocellular(1079;0.137)	667					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.2001C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	c	0.142	-1.101549	0.01828	.	.	ENSG00000104885	ENST00000440640	.	.	.	5.13	-10.3	0.00346	.	.	.	.	.	T	0.33585	0.0868	.	.	.	0.35246	D	0.778281	.	.	.	.	.	.	T	0.39165	-0.9627	4	.	.	.	-7.6221	3.7251	0.08472	0.1849:0.086:0.3934:0.3358	.	.	.	.	M	454	.	.	T	+	2	0	DOT1L	2167357	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.653000	0.00203	-3.722000	0.00115	-0.810000	0.03169	ACG		0.657	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		17	28	0	0	0	0	17	28				
TLE6	79816	broad.mit.edu	37	19	2993528	2993528	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:2993528C>T	ENST00000246112.4	+	15	1686	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	TLE6_ENST00000452088.1_Silent_p.H372H	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	495					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCGGCACATGGTGGGGC	0.632																																						uc002lwu.2		NA																	0				ovary(1)	1						c.(1114-1116)CAC>CAT		transducin-like enhancer of split 6 isoform 2							72.0	66.0	68.0					19																	2993528		2203	4300	6503	SO:0001819	synonymous_variant	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2993528C>T	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1485C>T	19.37:g.2993528C>T						TLE6_uc002lwt.2_Silent_p.H495H|TLE6_uc010dtg.2_Silent_p.H495H|TLE6_uc002lwv.2_Silent_p.H276H	p.H372H	NM_024760	NP_079036	Q9H808	TLE6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1516	+			372			WD 5.		J3KMZ1	Silent	SNP	ENST00000246112.4	37	c.1116C>T	CCDS45910.1																																																																																				0.632	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		11	32	0	0	0	0	11	32				
ATCAY	85300	broad.mit.edu	37	19	3907911	3907911	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:3907911C>A	ENST00000450849.2	+	5	1005	c.538C>A	c.(538-540)Cac>Aac	p.H180N	ATCAY_ENST00000398448.3_Missense_Mutation_p.H186N|ATCAY_ENST00000301260.6_Missense_Mutation_p.H180N|ATCAY_ENST00000600960.1_Missense_Mutation_p.H180N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	180	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGTGGTCACCCACGGAGGTGA	0.667																																						uc002lyy.3		NA																	0				breast(1)	1						c.(538-540)CAC>AAC		caytaxin							33.0	39.0	37.0					19																	3907911		1973	4145	6118	SO:0001583	missense	85300				transport		protein binding	g.chr19:3907911C>A		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.538C>A	19.37:g.3907911C>A	ENSP00000390941:p.His180Asn					ATCAY_uc010xhz.1_Missense_Mutation_p.H186N|ATCAY_uc010dts.2_5'Flank	p.H180N	NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	5	968	+		Hepatocellular(1079;0.137)	180			CRAL-TRIO.		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.538C>A	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237815	0.79800	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.29142	1.58;1.58;1.58	5.1	5.1	0.69264	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.241545	0.44902	D	0.000418	T	0.62490	0.2432	M	0.87682	2.9	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.70015	-0.4988	10	0.72032	D	0.01	0.4698	17.5524	0.87880	0.0:1.0:0.0:0.0	.	186;180	B4DS11;Q86WG3	.;ATCAY_HUMAN	N	180;180;180;186;158	ENSP00000390941:H180N;ENSP00000301260:H180N;ENSP00000381466:H186N	ENSP00000301260:H180N	H	+	1	0	ATCAY	3858911	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.251000	0.78297	2.385000	0.81259	0.650000	0.86243	CAC		0.667	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			7	16	1	0	0.00448238	0.00586905	7	16				
LONP1	9361	broad.mit.edu	37	19	5711885	5711885	+	Missense_Mutation	SNP	G	G	A	rs116591583	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:5711885G>A	ENST00000360614.3	-	4	924	c.767C>T	c.(766-768)gCg>gTg	p.A256V	LONP1_ENST00000540670.2_Missense_Mutation_p.A60V|LONP1_ENST00000593119.1_Missense_Mutation_p.A192V|LONP1_ENST00000585374.1_Missense_Mutation_p.A142V|LONP1_ENST00000590729.1_Missense_Mutation_p.A142V	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGCCAGCTCCGCCGGGTGCCT	0.667													G|||	10	0.00199681	0.0076	0.0	5008	,	,		17655	0.0		0.0	False		,,,				2504	0.0					uc002mcx.2		NA																	0					0						c.(766-768)GCG>GTG		mitochondrial lon peptidase 1 precursor		G	VAL/ALA	21,4385	28.1+/-56.4	0,21,2182	57.0	55.0	56.0		767	-2.7	0.0	19	dbSNP_133	56	0,8600		0,0,4300	yes	missense	LONP1	NM_004793.2	64	0,21,6482	AA,AG,GG		0.0,0.4766,0.1615	benign	256/960	5711885	21,12985	2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5711885G>A	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.767C>T	19.37:g.5711885G>A	ENSP00000353826:p.Ala256Val					LONP1_uc002mcy.2_Missense_Mutation_p.A192V|LONP1_uc010duh.2_5'UTR|LONP1_uc010dui.2_Missense_Mutation_p.A256V|LONP1_uc002mcz.2_Missense_Mutation_p.A60V	p.A256V	NM_004793	NP_004784	P36776	LONM_HUMAN			4	800	-			256			Lon.			Missense_Mutation	SNP	ENST00000360614.3	37	c.767C>T	CCDS12148.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.72	1.428837	0.25726	0.004766	0.0	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.44083	0.93;0.93	4.96	-2.7	0.06004	Peptidase S16, lon N-terminal (2);	2.072920	0.02211	N	0.063212	T	0.23370	0.0565	L	0.43152	1.355	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.001;0.004;0.003	T	0.04427	-1.0952	10	0.29301	T	0.29	-10.0352	1.9457	0.03356	0.389:0.1367:0.3412:0.1332	.	256;192;256	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	V	256;220;60	ENSP00000353826:A256V;ENSP00000441523:A60V	ENSP00000351177:A220V	A	-	2	0	LONP1	5662885	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.144000	0.10280	-0.734000	0.04843	-0.378000	0.06908	GCG		0.667	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		18	43	0	0	0	0	18	43				
EMR1	2015	broad.mit.edu	37	19	6913740	6913740	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:6913740C>T	ENST00000312053.4	+	11	1236	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	EMR1_ENST00000381404.4_Missense_Mutation_p.S348F|EMR1_ENST00000381407.5_Missense_Mutation_p.S259F|EMR1_ENST00000450315.3_Missense_Mutation_p.S223F|EMR1_ENST00000250572.8_Missense_Mutation_p.S400F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	400	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAGACGTCCTCCCTGGCCACA	0.463																																						uc002mfw.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(1198-1200)TCC>TTC		egf-like module containing, mucin-like, hormone							127.0	118.0	121.0					19																	6913740		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6913740C>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1199C>T	19.37:g.6913740C>T	ENSP00000311545:p.Ser400Phe					EMR1_uc010dvc.2_Missense_Mutation_p.S400F|EMR1_uc010dvb.2_Missense_Mutation_p.S348F|EMR1_uc010xji.1_Missense_Mutation_p.S259F|EMR1_uc010xjj.1_Missense_Mutation_p.S223F	p.S400F	NM_001974	NP_001965	Q14246	EMR1_HUMAN			11	1237	+	all_hematologic(4;0.166)		400			Ser/Thr-rich.|Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1199C>T	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	C	5.201	0.222666	0.09863	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.78924	-1.18;-1.2;-1.22;-0.02;0.3	5.09	4.04	0.47022	.	.	.	.	.	T	0.70859	0.3272	L	0.36672	1.1	0.09310	N	1	P;P;P;P;P	0.51147	0.942;0.883;0.744;0.855;0.855	P;B;B;B;B	0.48982	0.597;0.272;0.188;0.212;0.212	T	0.57676	-0.7770	9	0.09338	T	0.73	.	9.7493	0.40466	0.0:0.9025:0.0:0.0975	.	223;259;400;348;400	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	F	400;400;348;400;259;223	ENSP00000311545:S400F;ENSP00000370811:S348F;ENSP00000250572:S400F;ENSP00000370814:S259F;ENSP00000405974:S223F	ENSP00000250572:S400F	S	+	2	0	EMR1	6864740	0.000000	0.05858	0.033000	0.17914	0.076000	0.17211	0.594000	0.24014	1.134000	0.42165	0.655000	0.94253	TCC		0.463	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			51	74	0	0	0	0	51	74				
HNRNPM	4670	broad.mit.edu	37	19	8555792	8555792	+	IGR	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:8555792C>T	ENST00000325495.4	+	0	2494				PRAM1_ENST00000255612.3_Silent_p.R573R|PRAM1_ENST00000423345.4_Silent_p.R574R	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCCGGAACTCCCTCTCGGCCT	0.592																																						uc002mkd.2		NA																	0					0						c.(1720-1722)AGG>AGA		PML-RARA regulated adaptor molecule 1							189.0	197.0	194.0					19																	8555792		2029	4172	6201	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555792C>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383		19.37:g.8555792C>T						PRAM1_uc002mkc.2_Silent_p.R573R	p.R574R	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN			6	1742	-			622			SH3.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.1722G>A	CCDS12203.1																																																																																				0.592	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			10	258	0	0	0	0	10	258				
MYO1F	4542	broad.mit.edu	37	19	8616943	8616943	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:8616943C>G	ENST00000338257.8	-	7	877	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	204	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAGTTCCTCTCATTTTCATTT	0.572																																						uc002mkg.2		NA																	0				ovary(2)|skin(1)	3						c.(610-612)GAG>CAG		myosin IF							75.0	76.0	76.0					19																	8616943		1958	4170	6128	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8616943C>G	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.610G>C	19.37:g.8616943C>G	ENSP00000344871:p.Glu204Gln					MYO1F_uc002mkh.2_Missense_Mutation_p.E204Q|MYO1F_uc010xkf.1_Missense_Mutation_p.E204Q	p.E204Q	NM_012335	NP_036467	O00160	MYO1F_HUMAN			7	724	-			204			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.610G>C	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522781	0.85600	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.97941	-4.62	3.93	3.93	0.45458	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.99834	4.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.998	D	0.97764	1.0222	10	0.87932	D	0	.	15.1284	0.72500	0.0:1.0:0.0:0.0	.	204;204;204	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	Q	249;204	ENSP00000344871:E204Q	ENSP00000304899:E249Q	E	-	1	0	MYO1F	8522943	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	7.651000	0.83577	2.048000	0.60808	0.460000	0.39030	GAG		0.572	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			26	48	0	0	0	0	26	48				
MUC16	94025	broad.mit.edu	37	19	8987085	8987085	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:8987085G>A	ENST00000397910.4	-	69	42108	c.41905C>T	c.(41905-41907)Ctg>Ttg	p.L13969L	MUC16_ENST00000380951.5_Silent_p.L610L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13994	SEA 13. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGTGCACCCAGGCTGCTCCTC	0.602																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(41905-41907)CTG>TTG		mucin 16							31.0	31.0	31.0					19																	8987085		1991	4149	6140	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8987085G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41905C>T	19.37:g.8987085G>A						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.L786L|MUC16_uc010xki.1_RNA	p.L13969L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			69	42109	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.41905C>T	CCDS54212.1																																																																																				0.602	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	10	0	0	0	0	3	10				
MUC16	94025	broad.mit.edu	37	19	9047583	9047583	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:9047583A>G	ENST00000397910.4	-	5	34251	c.34048T>C	c.(34048-34050)Tgg>Cgg	p.W11350R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11352	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGTAACCCATGAGGCTGTT	0.507																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(34048-34050)TGG>CGG		mucin 16							251.0	239.0	243.0					19																	9047583		2067	4210	6277	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047583A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34048T>C	19.37:g.9047583A>G	ENSP00000381008:p.Trp11350Arg						p.W11350R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	34252	-			11352			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34048T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	5.159	0.214952	0.09810	.	.	ENSG00000181143	ENST00000397910	T	0.03094	4.05	3.38	-0.0394	0.13876	.	.	.	.	.	T	0.07999	0.0200	L	0.46157	1.445	.	.	.	D	0.69078	0.997	D	0.63793	0.918	T	0.29397	-1.0013	8	0.87932	D	0	.	2.3358	0.04247	0.5363:0.0:0.2494:0.2143	.	11350	B5ME49	.	R	11350	ENSP00000381008:W11350R	ENSP00000381008:W11350R	W	-	1	0	MUC16	8908583	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.316000	0.19469	-0.093000	0.12396	0.478000	0.44815	TGG		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		75	174	0	0	0	0	75	174				
MUC16	94025	broad.mit.edu	37	19	9071740	9071740	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:9071740G>T	ENST00000397910.4	-	3	15909	c.15706C>A	c.(15706-15708)Cca>Aca	p.P5236T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5238	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGTCTGGGGTGGAAATT	0.473																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15706-15708)CCA>ACA		mucin 16							164.0	161.0	162.0					19																	9071740		1984	4163	6147	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071740G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15706C>A	19.37:g.9071740G>T	ENSP00000381008:p.Pro5236Thr						p.P5236T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15910	-			5238			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15706C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.638	-0.074129	0.07184	.	.	ENSG00000181143	ENST00000397910	T	0.03181	4.02	1.94	1.94	0.25998	.	.	.	.	.	T	0.03095	0.0091	L	0.29908	0.895	.	.	.	P	0.44090	0.826	B	0.37989	0.262	T	0.30297	-0.9983	8	0.87932	D	0	.	7.4597	0.27287	0.0:0.0:1.0:0.0	.	5236	B5ME49	.	T	5236	ENSP00000381008:P5236T	ENSP00000381008:P5236T	P	-	1	0	MUC16	8932740	0.000000	0.05858	0.005000	0.12908	0.036000	0.12997	-1.220000	0.02971	1.401000	0.46761	0.449000	0.29647	CCA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		36	77	1	0	9.66e-10	1.45e-09	36	77				
ZNF560	147741	broad.mit.edu	37	19	9577625	9577625	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:9577625A>T	ENST00000301480.4	-	10	2211	c.1998T>A	c.(1996-1998)agT>agA	p.S666R		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	666					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)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CACAAGACCTACTGTAAGCTT	0.388																																						uc002mlp.1		NA																	0				skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1996-1998)AGT>AGA		zinc finger protein 560							106.0	112.0	110.0					19																	9577625		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577625A>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1998T>A	19.37:g.9577625A>T	ENSP00000301480:p.Ser666Arg					ZNF560_uc010dwr.1_Missense_Mutation_p.S560R	p.S666R	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	2208	-			666			C2H2-type 12.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1998T>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653684	0.29425	.	.	ENSG00000198028	ENST00000301480	T	0.07567	3.18	1.79	-2.11	0.07187	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	N	0.25426	0.745	0.09310	N	1	B	0.28208	0.203	B	0.24974	0.057	T	0.44205	-0.9343	9	0.19590	T	0.45	.	2.2025	0.03927	0.3841:0.0:0.3619:0.2541	.	666	Q96MR9	ZN560_HUMAN	R	666	ENSP00000301480:S666R	ENSP00000301480:S666R	S	-	3	2	ZNF560	9438625	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-2.346000	0.01096	-0.730000	0.04869	0.379000	0.24179	AGT		0.388	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		50	76	0	0	0	0	50	76				
ZNF426	79088	broad.mit.edu	37	19	9639320	9639320	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:9639320C>A	ENST00000535489.1	-	6	1737	c.1401G>T	c.(1399-1401)atG>atT	p.M467I	ZNF426_ENST00000593003.1_Missense_Mutation_p.M429I|ZNF426_ENST00000253115.2_Missense_Mutation_p.M467I			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGTGGATTCGCATGTGAATTT	0.423																																						uc002mlq.2		NA																	0				ovary(1)	1						c.(1399-1401)ATG>ATT		zinc finger protein 426							106.0	101.0	102.0					19																	9639320		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639320C>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1401G>T	19.37:g.9639320C>A	ENSP00000439017:p.Met467Ile					ZNF426_uc010dws.2_Missense_Mutation_p.M429I	p.M467I	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN			8	1665	-			467			C2H2-type 9.		B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.1401G>T	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	C	0.448	-0.895350	0.02491	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.10573	2.86;2.86	1.52	-3.03	0.05429	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.10618	0.005	0.09310	N	1	B;B	0.21905	0.062;0.062	B;B	0.21360	0.034;0.034	T	0.37056	-0.9722	9	0.59425	D	0.04	.	0.8028	0.01078	0.1719:0.2008:0.3426:0.2847	.	454;467	Q59EH4;Q9BUY5	.;ZN426_HUMAN	I	454;467;467	ENSP00000253115:M467I;ENSP00000439017:M467I	ENSP00000253115:M467I	M	-	3	0	ZNF426	9500320	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-3.441000	0.00470	-1.413000	0.02027	-0.253000	0.11424	ATG		0.423	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		19	56	1	0	0.00121646	0.00160932	19	56				
DNM2	1785	broad.mit.edu	37	19	10893759	10893759	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:10893759G>T	ENST00000355667.6	+	6	892	c.812G>T	c.(811-813)cGc>cTc	p.R271L	DNM2_ENST00000408974.4_Missense_Mutation_p.R271L|MIR4748_ENST00000578076.1_RNA|DNM2_ENST00000389253.4_Missense_Mutation_p.R271L|DNM2_ENST00000585892.1_Missense_Mutation_p.R271L|DNM2_ENST00000359692.6_Missense_Mutation_p.R271L|DNM2_ENST00000314646.5_Missense_Mutation_p.R271L	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	271	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ATGGCCGACCGCATGGGCACG	0.577			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NA		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(811-813)CGC>CTC		dynamin 2 isoform 2							76.0	57.0	63.0					19																	10893759		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10893759G>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.812G>T	19.37:g.10893759G>T	ENSP00000347890:p.Arg271Leu					DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.R271L|DNM2_uc002mpv.1_Missense_Mutation_p.R271L|DNM2_uc002mpu.1_Missense_Mutation_p.R271L|DNM2_uc010dxl.1_Missense_Mutation_p.R271L|DNM2_uc002mpw.2_Missense_Mutation_p.R4L	p.R271L	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		6	976	+			271					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.812G>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375477	0.82682	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86	5.41	5.41	0.78517	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.97617	0.9219	M	0.77712	2.385	0.80722	D	1	D;B;B;B;D	0.76494	0.999;0.26;0.012;0.142;0.999	D;B;B;B;D	0.80764	0.953;0.136;0.021;0.083;0.994	D	0.98285	1.0510	10	0.87932	D	0	-3.0958	17.9669	0.89102	0.0:0.0:1.0:0.0	.	4;271;271;271;271	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	L	260;271;271;271;271;271	ENSP00000386192:R271L;ENSP00000347890:R271L;ENSP00000352721:R271L;ENSP00000373905:R271L;ENSP00000313164:R271L	ENSP00000313164:R271L	R	+	2	0	DNM2	10754759	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.537000	0.85549	0.563000	0.77884	CGC		0.577	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		19	40	1	0	1.45e-14	2.31e-14	19	40				
MAN2B1	4125	broad.mit.edu	37	19	12767762	12767762	+	Splice_Site	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:12767762C>G	ENST00000456935.2	-	12	1568		c.e12+1		MAN2B1_ENST00000495617.1_Splice_Site|MAN2B1_ENST00000221363.4_Splice_Site	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1						cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCCGGCTCACGCGCGCCGCC	0.572																																						uc002mub.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.e12+1		mannosidase, alpha, class 2B, member 1							20.0	21.0	21.0					19																	12767762		2203	4298	6501	SO:0001630	splice_region_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12767762C>G		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1527+1G>C	19.37:g.12767762C>G						MAN2B1_uc010dyv.1_Splice_Site_p.R508_splice	p.R509_splice	NM_000528	NP_000519	O00754	MA2B1_HUMAN			12	1603	-								G5E928|O15330|Q16680|Q93094|Q9BW13	Splice_Site	SNP	ENST00000456935.2	37	c.1527_splice	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530739	0.45073	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363;ENST00000433513	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3447	0.66651	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAN2B1	12628762	0.975000	0.34042	0.709000	0.30452	0.485000	0.33311	2.564000	0.45931	2.443000	0.82685	0.467000	0.42956	.		0.572	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		Intron	8	12	0	0	0	0	8	12				
C19orf43	79002	broad.mit.edu	37	19	12848400	12848400	+	5'Flank	SNP	A	A	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:12848400A>C	ENST00000242784.4	-	0	0				ASNA1_ENST00000591090.1_Silent_p.T27T|C19orf43_ENST00000588213.1_5'Flank|C19orf43_ENST00000592273.1_5'Flank|ASNA1_ENST00000357332.3_Silent_p.T27T	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43											endometrium(2)|large_intestine(2)	4						TGGAGCCTACACTTAGCAACA	0.627																																						uc002muv.2		NA																	0				ovary(2)	2						c.(79-81)ACA>ACC		arsA arsenite transporter, ATP-binding, homolog	Adenosine triphosphate(DB00171)						42.0	34.0	37.0					19																	12848400		2203	4300	6503	SO:0001631	upstream_gene_variant	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12848400A>C	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61			19.37:g.12848400A>C	Exception_encountered					C19orf43_uc002muu.2_5'Flank|ASNA1_uc002muw.2_Silent_p.T27T	p.T27T	NM_004317	NP_004308	O43681	ASNA_HUMAN			1	95	+			27						Silent	SNP	ENST00000242784.4	37	c.81A>C	CCDS12279.1																																																																																				0.627	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038		7	14	0	0	0	0	7	14				
C19orf44	84167	broad.mit.edu	37	19	16611661	16611661	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:16611661G>A	ENST00000221671.3	+	2	214	c.58G>A	c.(58-60)Gat>Aat	p.D20N	C19orf44_ENST00000594035.1_Missense_Mutation_p.D20N|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	20										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGACTTCAGTGATGTTTCCTT	0.423																																						uc002neh.1		NA																	0					0						c.(58-60)GAT>AAT		hypothetical protein LOC84167							117.0	108.0	111.0					19																	16611661		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16611661G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.58G>A	19.37:g.16611661G>A	ENSP00000221671:p.Asp20Asn					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.D20N|C19orf44_uc002neg.2_Missense_Mutation_p.D20N|C19orf44_uc010eai.1_RNA	p.D20N	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			2	131	+			20					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.58G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787436	0.31593	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.81	2.62	0.31277	.	0.242222	0.33199	N	0.005163	T	0.57140	0.2033	M	0.69823	2.125	0.09310	N	1	B;D	0.89917	0.025;1.0	B;D	0.91635	0.043;0.999	T	0.46638	-0.9177	9	0.72032	D	0.01	-11.6178	6.0863	0.19968	0.0972:0.0:0.7186:0.1842	.	20;20	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	N	20	.	ENSP00000221671:D20N	D	+	1	0	C19orf44	16472661	0.307000	0.24500	0.002000	0.10522	0.002000	0.02628	1.499000	0.35671	0.435000	0.26365	-0.123000	0.14984	GAT		0.423	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		41	83	0	0	0	0	41	83				
COLGALT1	79709	broad.mit.edu	37	19	17688840	17688840	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:17688840G>A	ENST00000252599.4	+	9	1328	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	403					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										TACCACGGCCGGCCCCTCACC	0.632																																						uc002nhc.1		NA																	0					0						c.(1207-1209)CGG>CAG		glycosyltransferase 25 domain containing 1							41.0	40.0	40.0					19																	17688840		2203	4300	6503	SO:0001583	missense	79709				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr19:17688840G>A	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1208G>A	19.37:g.17688840G>A	ENSP00000252599:p.Arg403Gln					GLT25D1_uc010eax.1_Missense_Mutation_p.R131Q|GLT25D1_uc010eay.1_5'Flank	p.R403Q	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN			9	1220	+			403					Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.1208G>A	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202524	0.94997	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.80480	-1.38	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.92877	0.7734	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95026	0.8165	10	0.87932	D	0	-27.9682	15.8302	0.78743	0.0:0.0:1.0:0.0	.	131;403	E9PC06;Q8NBJ5	.;GT251_HUMAN	Q	131;403	ENSP00000252599:R403Q	ENSP00000252599:R403Q	R	+	2	0	GLT25D1	17549840	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	9.521000	0.98029	2.342000	0.79632	0.305000	0.20034	CGG		0.632	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		11	47	0	0	0	0	11	47				
KIAA1683	80726	broad.mit.edu	37	19	18368176	18368176	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:18368176G>A	ENST00000600328.3	-	4	3550	c.3357C>T	c.(3355-3357)gcC>gcT	p.A1119A	KIAA1683_ENST00000392413.4_Silent_p.A1306A|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000600359.3_Silent_p.A1073A|PDE4C_ENST00000596647.1_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	1119	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CGGACTGGATGGCTGTGGCCG	0.652																																						uc002nin.2		NA																	0				ovary(2)	2						c.(3355-3357)GCC>GCT		KIAA1683 isoform b							46.0	44.0	45.0					19																	18368176		2203	4300	6503	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18368176G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3357C>T	19.37:g.18368176G>A						PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Silent_p.A1306A|KIAA1683_uc010xqe.1_Silent_p.A1073A|KIAA1683_uc010xqf.1_RNA	p.A1119A	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			4	3573	-			1119			IQ 5.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.3357C>T	CCDS32958.1																																																																																				0.652	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			19	40	0	0	0	0	19	40				
ARMC6	93436	broad.mit.edu	37	19	19166617	19166617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:19166617C>A	ENST00000535612.1	+	8	1605	c.1173C>A	c.(1171-1173)tgC>tgA	p.C391*	ARMC6_ENST00000392336.3_Nonsense_Mutation_p.C391*|ARMC6_ENST00000392335.2_Nonsense_Mutation_p.C366*|ARMC6_ENST00000269932.6_Nonsense_Mutation_p.C366*|ARMC6_ENST00000546344.1_Nonsense_Mutation_p.C298*	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	391					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AGCAGAGCTGCGCGGCCCTGT	0.642																																						uc002nld.2		NA																	0					0						c.(1171-1173)TGC>TGA		armadillo repeat containing 6							90.0	98.0	95.0					19																	19166617		2203	4300	6503	SO:0001587	stop_gained	93436						protein binding	g.chr19:19166617C>A	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1173C>A	19.37:g.19166617C>A	ENSP00000444156:p.Cys391*					ARMC6_uc002nlc.2_Nonsense_Mutation_p.C366*|ARMC6_uc010xql.1_Nonsense_Mutation_p.C298*|ARMC6_uc002nle.2_Nonsense_Mutation_p.C366*|ARMC6_uc010xqm.1_Nonsense_Mutation_p.C391*	p.C391*	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		8	1521	+			391			ARM 4.		B4DI98|O94999|Q9BTH5	Nonsense_Mutation	SNP	ENST00000535612.1	37	c.1173C>A	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.871919|4.871919	0.91587|0.91587	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336|ENST00000535795	.|.	.|.	.|.	5.24|5.24	-5.15|-5.15	0.02866|0.02866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.47229	.|0.1434	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52366	.|-0.8585	.|3	0.02654|.	T|.	1|.	-11.8201|-11.8201	13.1841|13.1841	0.59672|0.59672	0.0:0.4951:0.0:0.5049|0.0:0.4951:0.0:0.5049	.|.	.|.	.|.	.|.	X|S	366;391;366;298;302;391|55	.|.	ENSP00000269932:C366X|.	C|R	+|+	3|1	2|0	ARMC6|ARMC6	19027617|19027617	0.239000|0.239000	0.23836|0.23836	0.210000|0.210000	0.23637|0.23637	0.066000|0.066000	0.16364|0.16364	-0.444000|-0.444000	0.06854|0.06854	-1.600000|-1.600000	0.01603|0.01603	-1.223000|-1.223000	0.01593|0.01593	TGC|CGC		0.642	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		59	122	1	0	3.79e-19	6.33e-19	59	122				
ZNF676	163223	broad.mit.edu	37	19	22364105	22364105	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:22364105C>G	ENST00000397121.2	-	3	731	c.414G>C	c.(412-414)gaG>gaC	p.E138D		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	138					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCAAACCTTTCTCTCCAGTAT	0.323																																						uc002nqs.1		NA																	0					0						c.(412-414)GAG>GAC		zinc finger protein 676							120.0	118.0	119.0					19																	22364105		2029	4202	6231	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364105C>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.414G>C	19.37:g.22364105C>G	ENSP00000380310:p.Glu138Asp						p.E138D	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	732	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	138					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.414G>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	5.010	0.187461	0.09547	.	.	ENSG00000196109	ENST00000397121	T	0.34859	1.34	0.601	-1.2	0.09554	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27832	0.0685	M	0.64630	1.985	0.09310	N	1	P	0.37955	0.612	B	0.34536	0.185	T	0.18116	-1.0347	9	0.52906	T	0.07	.	2.7825	0.05365	0.27:0.5166:0.0:0.2134	.	138	Q8N7Q3	ZN676_HUMAN	D	138	ENSP00000380310:E138D	ENSP00000380310:E138D	E	-	3	2	ZNF676	22155945	0.002000	0.14202	0.002000	0.10522	0.037000	0.13140	-0.150000	0.10189	-0.329000	0.08527	0.186000	0.17326	GAG		0.323	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		11	121	0	0	0	0	11	121				
ZFP14	57677	broad.mit.edu	37	19	36832353	36832353	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:36832353G>T	ENST00000270001.7	-	5	490	c.375C>A	c.(373-375)tgC>tgA	p.C125*		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	125					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(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCTTGCTTTTGCATTCCCAAT	0.343																																						uc002odx.1		NA																	0				ovary(1)	1						c.(373-375)TGC>TGA		zinc finger protein 14-like							116.0	112.0	113.0					19																	36832353		2203	4299	6502	SO:0001587	stop_gained	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36832353G>T	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.375C>A	19.37:g.36832353G>T	ENSP00000270001:p.Cys125*					ZFP14_uc010xtd.1_Nonsense_Mutation_p.C126*|ZFP14_uc010eex.1_Nonsense_Mutation_p.C125*	p.C125*	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	468	-	Esophageal squamous(110;0.162)		125					A7MD23	Nonsense_Mutation	SNP	ENST00000270001.7	37	c.375C>A	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	g	16.56	3.157178	0.57259	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	.	.	.	4.09	0.807	0.18714	.	0.467802	0.18383	N	0.142912	.	.	.	.	.	.	0.20821	N	0.999844	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4149	0.27038	0.3126:0.0:0.6874:0.0	.	.	.	.	X	125	.	ENSP00000270001:C125X	C	-	3	2	ZFP14	41524193	0.045000	0.20229	0.989000	0.46669	0.990000	0.78478	0.864000	0.27926	0.463000	0.27118	0.549000	0.68633	TGC		0.343	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		15	72	1	0	1.37e-15	2.21e-15	15	72				
ZNF260	339324	broad.mit.edu	37	19	37005104	37005104	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:37005104G>A	ENST00000523638.1	-	3	2158	c.1037C>T	c.(1036-1038)tCt>tTt	p.S346F	ZNF260_ENST00000588993.1_Missense_Mutation_p.S346F|ZNF260_ENST00000593142.1_Missense_Mutation_p.S346F|ZNF260_ENST00000592282.1_Missense_Mutation_p.S346F	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	346					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CACAGTAAGAGATGAGCTTTG	0.423																																						uc002oee.1		NA																	0					0						c.(1036-1038)TCT>TTT		zinc finger protein 260							114.0	103.0	107.0					19																	37005104		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005104G>A	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.1037C>T	19.37:g.37005104G>A	ENSP00000429803:p.Ser346Phe					ZNF260_uc002oed.1_Missense_Mutation_p.S343F|ZNF260_uc010eey.1_Missense_Mutation_p.S343F|ZNF260_uc002oef.1_Missense_Mutation_p.S343F	p.S346F	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN			4	1881	-	Esophageal squamous(110;0.162)		346			C2H2-type 11.		Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.1037C>T	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996295	0.35226	.	.	ENSG00000254004	ENST00000523638	T	0.16073	2.37	4.27	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17789	0.0427	M	0.64080	1.96	0.09310	N	1	B	0.17268	0.021	B	0.18263	0.021	T	0.15723	-1.0427	9	0.36615	T	0.2	.	8.1475	0.31121	0.204:0.0:0.796:0.0	.	346	Q3ZCT1	ZN260_HUMAN	F	346	ENSP00000429803:S346F	ENSP00000429803:S346F	S	-	2	0	ZNF260	41696944	0.000000	0.05858	0.680000	0.29994	0.953000	0.61014	-1.445000	0.02401	1.129000	0.42072	0.561000	0.74099	TCT		0.423	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		12	37	0	0	0	0	12	37				
CRX	1406	broad.mit.edu	37	19	48342676	48342676	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:48342676A>T	ENST00000221996.7	+	4	558	c.352A>T	c.(352-354)Aag>Tag	p.K118*	CRX_ENST00000539067.1_Nonsense_Mutation_p.K118*|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	118					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCGGCCTGCCAAGAGGAAGGC	0.647																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3		NA																	0				breast(1)|central_nervous_system(1)	2						c.(352-354)AAG>TAG		cone-rod homeobox protein							43.0	49.0	47.0					19																	48342676		2202	4300	6502	SO:0001587	stop_gained	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342676A>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.352A>T	19.37:g.48342676A>T	ENSP00000221996:p.Lys118*						p.K118*	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	556	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	118					Q0QD45	Nonsense_Mutation	SNP	ENST00000221996.7	37	c.352A>T	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	A	37	6.097600	0.97281	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	.	.	.	3.86	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3489	10.669	0.45747	1.0:0.0:0.0:0.0	.	.	.	.	X	118	.	ENSP00000221996:K118X	K	+	1	0	CRX	53034488	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.596000	0.74113	1.614000	0.50241	0.377000	0.23210	AAG		0.647	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		35	24	0	0	0	0	35	24				
GYS1	2997	broad.mit.edu	37	19	49477910	49477910	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:49477910G>T	ENST00000323798.3	-	11	1585	c.1389C>A	c.(1387-1389)atC>atA	p.I463I	GYS1_ENST00000541188.1_Silent_p.I383I|GYS1_ENST00000544287.1_Silent_p.I96I|GYS1_ENST00000263276.6_Silent_p.I399I	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	463					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGAAGAGGCCGATTCGGCGGA	0.612																																						uc002plp.2		NA																	0				ovary(2)	2						c.(1387-1389)ATC>ATA		glycogen synthase 1 (muscle) isoform 1							66.0	58.0	61.0					19																	49477910		2203	4300	6503	SO:0001819	synonymous_variant	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49477910G>T		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1389C>A	19.37:g.49477910G>T						GYS1_uc010xzy.1_Silent_p.I96I|GYS1_uc010emm.2_Silent_p.I399I|GYS1_uc010xzz.1_Silent_p.I383I|GYS1_uc010yaa.1_RNA	p.I463I	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	11	1630	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	463					Q9BTT9	Silent	SNP	ENST00000323798.3	37	c.1389C>A	CCDS12747.1																																																																																				0.612	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		12	7	1	0	7.04e-09	1.04e-08	12	7				
ZNF611	81856	broad.mit.edu	37	19	53209368	53209368	+	Missense_Mutation	SNP	G	G	A	rs146528210		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:53209368G>A	ENST00000319783.1	-	7	1256	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ZNF611_ENST00000453741.2_Missense_Mutation_p.R245C|ZNF611_ENST00000543227.1_Missense_Mutation_p.R314C|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Missense_Mutation_p.R314C|ZNF611_ENST00000602162.1_Missense_Mutation_p.R245C|ZNF611_ENST00000595798.1_Missense_Mutation_p.R245C	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CAATTGTAACGTTTTACTCCA	0.398																																						uc002pzz.2		NA																	0				ovary(1)	1						c.(940-942)CGT>TGT		zinc finger protein 611 isoform a		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405		0,1,2202	146.0	136.0	139.0		940,940,733,940	1.7	0.0	19	dbSNP_134	139	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF611	NM_001161499.1,NM_001161500.1,NM_001161501.1,NM_030972.3	180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	314/706,314/706,245/637,314/706	53209368	1,13005	2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209368G>A	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.940C>T	19.37:g.53209368G>A	ENSP00000322427:p.Arg314Cys					ZNF611_uc010eqc.2_Missense_Mutation_p.R244C|ZNF611_uc010ydo.1_Missense_Mutation_p.R244C|ZNF611_uc010ydr.1_Missense_Mutation_p.R245C|ZNF611_uc010ydp.1_Missense_Mutation_p.R314C|ZNF611_uc010ydq.1_Missense_Mutation_p.R314C|ZNF611_uc002qaa.3_Missense_Mutation_p.R244C	p.R314C	NM_030972	NP_112234	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	7	1257	-			314					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.940C>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	14.54	2.567103	0.45694	2.27E-4	0.0	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	1.72	1.72	0.24424	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24314	0.0589	L	0.49778	1.585	0.29979	N	0.817845	P	0.49090	0.919	P	0.46144	0.505	T	0.17258	-1.0375	9	0.87932	D	0	.	10.4497	0.44516	0.0:0.0:1.0:0.0	.	314	Q8N823	ZN611_HUMAN	C	314;314;245;314	ENSP00000437616:R314C;ENSP00000439211:R314C;ENSP00000443505:R245C;ENSP00000322427:R314C	ENSP00000322427:R314C	R	-	1	0	ZNF611	57901180	0.002000	0.14202	0.003000	0.11579	0.007000	0.05969	0.550000	0.23345	0.951000	0.37770	0.306000	0.20318	CGT		0.398	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		5	77	0	0	0	0	5	77				
NLRP12	91662	broad.mit.edu	37	19	54301518	54301518	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:54301518G>A	ENST00000324134.6	-	8	3074	c.2906C>T	c.(2905-2907)gCc>gTc	p.A969V	NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391775.3_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.A970V|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391773.1_Missense_Mutation_p.A970V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A969V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	969					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGTCTGCAGGCGGGATGTTG	0.582																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(2905-2907)GCC>GTC		NLR family, pyrin domain containing 12 isoform							60.0	58.0	59.0					19																	54301518		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54301518G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2906C>T	19.37:g.54301518G>A	ENSP00000319377:p.Ala969Val					NLRP12_uc010eqw.2_Intron|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Missense_Mutation_p.A970V|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	p.A969V	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	8	3126	-	Ovarian(34;0.19)		969					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2906C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312182	0.23908	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000391773;ENST00000345770	T;T;T	0.52754	0.65;0.65;0.65	4.42	3.31	0.37934	.	0.236797	0.21316	U	0.076547	T	0.18509	0.0444	N	0.01109	-1.01	0.53688	D	0.99997	B;B	0.21309	0.054;0.02	B;B	0.18263	0.021;0.006	T	0.09885	-1.0654	10	0.59425	D	0.04	.	9.1865	0.37174	0.0:0.0:0.7835:0.2165	.	969;969	A8K407;P59046	.;NAL12_HUMAN	V	969;969;970;970	ENSP00000319377:A969V;ENSP00000438030:A969V;ENSP00000375653:A970V	ENSP00000319377:A969V	A	-	2	0	NLRP12	58993330	0.966000	0.33281	0.621000	0.29145	0.004000	0.04260	1.675000	0.37555	2.484000	0.83849	0.638000	0.83543	GCC		0.582	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		17	16	0	0	0	0	17	16				
PRKCG	5582	broad.mit.edu	37	19	54401709	54401709	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:54401709C>G	ENST00000263431.3	+	11	1390	c.1108C>G	c.(1108-1110)Cgc>Ggc	p.R370G	PRKCG_ENST00000540413.1_Missense_Mutation_p.R370G|PRKCG_ENST00000542049.1_Missense_Mutation_p.R257G|PRKCG_ENST00000536044.1_3'UTR	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GCTGGCCGAGCGCAGGGGCTC	0.577																																						uc002qcq.1		NA																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1108-1110)CGC>GGC		protein kinase C, gamma							59.0	54.0	56.0					19																	54401709		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54401709C>G	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1108C>G	19.37:g.54401709C>G	ENSP00000263431:p.Arg370Gly					PRKCG_uc010yef.1_3'UTR|PRKCG_uc010yeg.1_Missense_Mutation_p.R370G|PRKCG_uc010yeh.1_Missense_Mutation_p.R257G	p.R370G	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	11	1390	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		370			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1108C>G	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869613	0.51588	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.66280	-0.2;-0.2;-0.2	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.57533	0.2060	L	0.41492	1.28	0.49389	D	0.999787	P;B;B	0.48503	0.911;0.02;0.031	P;B;B	0.46076	0.503;0.021;0.082	T	0.62053	-0.6935	9	0.72032	D	0.01	.	11.434	0.50058	0.1803:0.8197:0.0:0.0	.	257;370;370	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	G	370;370;257	ENSP00000443493:R370G;ENSP00000263431:R370G;ENSP00000438090:R257G	ENSP00000263431:R370G	R	+	1	0	PRKCG	59093521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.669000	0.37492	2.528000	0.85240	0.561000	0.74099	CGC		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		16	18	0	0	0	0	16	18				
LILRB2	10288	broad.mit.edu	37	19	54779807	54779807	+	Missense_Mutation	SNP	G	G	A	rs371657709		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:54779807G>A	ENST00000391749.4	-	13	1919	c.1648C>T	c.(1648-1650)Cgg>Tgg	p.R550W	LILRB2_ENST00000434421.1_Missense_Mutation_p.R434W|LILRB2_ENST00000314446.5_Missense_Mutation_p.R549W|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.R549W	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	550					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCTCACCCGAGTGTCCATC	0.622																																						uc002qfb.2		NA																	0				skin(1)	1						c.(1648-1650)CGG>TGG		leukocyte immunoglobulin-like receptor,		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	146.0	141.0	143.0		1645,1648	-0.6	0.0	19		143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	549/598,550/599	54779807	1,13005	2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54779807G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1648C>T	19.37:g.54779807G>A	ENSP00000375629:p.Arg550Trp					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_3'UTR|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.R549W|LILRB2_uc010yet.1_Missense_Mutation_p.R434W	p.R550W	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1914	-	Ovarian(34;0.19)		550			Cytoplasmic (Potential).		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1648C>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	8.311	0.822051	0.16678	0.0	1.16E-4	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00488	7.15;7.15;7.15;7.04	1.82	-0.643	0.11482	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	D;D	0.69078	0.997;0.991	P;B	0.50791	0.65;0.446	T	0.52873	-0.8517	9	0.41790	T	0.15	.	2.7895	0.05384	0.2033:0.3079:0.4888:0.0	.	566;550	E7EVY1;Q8N423	.;LIRB2_HUMAN	W	549;549;550;434	ENSP00000375628:R549W;ENSP00000319960:R549W;ENSP00000375629:R550W;ENSP00000410117:R434W	ENSP00000319960:R549W	R	-	1	2	LILRB2	59471619	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-0.014000	0.12656	-0.050000	0.13356	0.297000	0.19635	CGG		0.622	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			55	59	0	0	0	0	55	59				
KIR3DL2	3812	broad.mit.edu	37	19	55378058	55378058	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:55378058C>A	ENST00000326321.3	+	9	1273	c.1240C>A	c.(1240-1242)Cct>Act	p.P414T	RNU6-222P_ENST00000362438.1_RNA|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P414T|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.P397T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	414					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)		AATCAGTCGCCCTTCTCAGAG	0.522																																						uc002qhl.3		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1240-1242)CCT>ACT		SubName: Full=KIR3DS1;							267.0	260.0	262.0					19																	55378058		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.chr19:55378058C>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.1240C>A	19.37:g.55378058C>A	ENSP00000325525:p.Pro414Thr					KIR3DL2_uc010esh.2_Missense_Mutation_p.P397T|KIR3DL2_uc002qho.3_Missense_Mutation_p.P414T	p.P414T			P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1303	+			414			Cytoplasmic (Potential).		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1240C>A	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	C	2.257	-0.370143	0.05069	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00518	7.19;7.15;6.86	1.59	-1.58	0.08479	.	.	.	.	.	T	0.01353	0.0044	M	0.81682	2.555	0.09310	N	1	B;D;D	0.89917	0.023;1.0;1.0	B;D;D	0.87578	0.024;0.996;0.998	T	0.41858	-0.9485	9	0.87932	D	0	.	5.6823	0.17782	0.3903:0.6097:0.0:0.0	.	397;414;414	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	T	414;414;397	ENSP00000384528:P414T;ENSP00000325525:P414T;ENSP00000270442:P397T	ENSP00000384528:P414T	P	+	1	0	KIR3DL1;KIR3DL2	60069870	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-1.823000	0.01710	-0.062000	0.13088	-0.784000	0.03344	CCT		0.522	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			114	97	1	0	9.5e-49	1.69e-48	114	97				
ZNF274	10782	broad.mit.edu	37	19	58718244	58718244	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:58718244G>A	ENST00000326804.4	+	5	873	c.414G>A	c.(412-414)ctG>ctA	p.L138L	ZNF274_ENST00000345813.3_Silent_p.L106L|ZNF274_ENST00000424679.2_Silent_p.L33L|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATGGAAGCCTGAGTGCAGATG	0.577																																						uc002qrq.1		NA																	0				ovary(1)	1						c.(412-414)CTG>CTA		zinc finger protein 274 isoform c							34.0	38.0	37.0					19																	58718244		2096	4227	6323	SO:0001819	synonymous_variant	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58718244G>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.414G>A	19.37:g.58718244G>A						ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Silent_p.L106L|ZNF274_uc002qrs.1_Silent_p.L33L|ZNF274_uc010eum.1_5'UTR	p.L138L	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	5	873	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	138					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	37	c.414G>A																																																																																					0.577	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		4	15	0	0	0	0	4	15				
GREB1	9687	broad.mit.edu	37	2	11750844	11750844	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:11750844G>T	ENST00000381486.2	+	18	2997	c.2697G>T	c.(2695-2697)agG>agT	p.R899S	GREB1_ENST00000234142.5_Missense_Mutation_p.R899S|GREB1_ENST00000396123.1_5'Flank	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	899						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGGTGATCAGGACCTTTGTTC	0.642																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(2695-2697)AGG>AGT		growth regulation by estrogen in breast cancer 1							44.0	47.0	46.0					2																	11750844		2103	4219	6322	SO:0001583	missense	9687					integral to membrane		g.chr2:11750844G>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2697G>T	2.37:g.11750844G>T	ENSP00000370896:p.Arg899Ser					GREB1_uc002rbo.1_Missense_Mutation_p.R533S|GREB1_uc002rbp.1_5'Flank	p.R899S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	18	2997	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		899					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.2697G>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304231	0.81136	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.58210	0.35;0.35;0.35	5.32	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.74647	2.275	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.72443	-0.4292	10	0.72032	D	0.01	-44.6995	11.1015	0.48177	0.0708:0.1278:0.8014:0.0	.	533;899	C9JIG0;Q4ZG55	.;GREB1_HUMAN	S	899;899;533	ENSP00000370896:R899S;ENSP00000234142:R899S;ENSP00000403886:R533S	ENSP00000234142:R899S	R	+	3	2	GREB1	11668295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.424000	0.34848	1.205000	0.43262	0.563000	0.77884	AGG		0.642	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		13	40	1	0	1.58e-08	2.32e-08	13	40				
ATAD2B	54454	broad.mit.edu	37	2	23980963	23980963	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:23980963G>A	ENST00000238789.5	-	25	3746	c.3403C>T	c.(3403-3405)Cgg>Tgg	p.R1135W	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1135						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTTTCTCCGAACCCGAACT	0.323																																						uc002rek.3		NA																	0				central_nervous_system(1)	1						c.(3403-3405)CGG>TGG		ATPase family, AAA domain containing 2B							39.0	38.0	39.0					2																	23980963		1810	4059	5869	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23980963G>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3403C>T	2.37:g.23980963G>A	ENSP00000238789:p.Arg1135Trp					ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.R375W|ATAD2B_uc002rej.3_Missense_Mutation_p.R303W	p.R1135W	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			25	3697	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1135					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.3403C>T	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850844	0.71719	.	.	ENSG00000119778	ENST00000238789;ENST00000546030	D	0.92149	-2.98	5.75	5.75	0.90469	.	0.902117	0.09426	N	0.803675	D	0.92763	0.7699	N	0.24115	0.695	0.41536	D	0.988485	D;D	0.76494	0.999;0.999	P;D	0.64687	0.849;0.928	D	0.89387	0.3686	10	0.87932	D	0	.	13.2836	0.60230	0.0:0.0:0.7417:0.2583	.	1135;1130	Q9ULI0;Q9ULI0-2	ATD2B_HUMAN;.	W	1135;303	ENSP00000238789:R1135W	ENSP00000238789:R1135W	R	-	1	2	ATAD2B	23834467	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.264000	0.58859	2.885000	0.99019	0.655000	0.94253	CGG		0.323	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		9	43	0	0	0	0	9	43				
MFSD2B	388931	broad.mit.edu	37	2	24247090	24247090	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:24247090C>T	ENST00000406420.3	+	13	1455	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	MFSD2B_ENST00000338315.4_Missense_Mutation_p.S480F	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	480					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						ATGGTCGGCTCCACTCCAAAG	0.647																																						uc002reo.1		NA																	0				ovary(2)	2						c.(1438-1440)TCC>TTC		major facilitator superfamily domain containing							45.0	50.0	48.0					2																	24247090		2079	4208	6287	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24247090C>T		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1439C>T	2.37:g.24247090C>T	ENSP00000385527:p.Ser480Phe						p.S480F	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN			13	1453	+			480					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.1439C>T	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956688	0.53293	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	T;T	0.17691	2.26;2.29	4.93	2.02	0.26589	Major facilitator superfamily domain, general substrate transporter (1);	0.067922	0.64402	U	0.000013	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	P	0.39883	0.693	B	0.39771	0.309	T	0.18178	-1.0345	10	0.46703	T	0.11	-13.6181	5.7938	0.18375	0.1422:0.6429:0.1374:0.0776	.	480	A6NFX1	MFS2B_HUMAN	F	480	ENSP00000385527:S480F;ENSP00000342501:S480F	ENSP00000342501:S480F	S	+	2	0	MFSD2B	24100594	0.000000	0.05858	0.000000	0.03702	0.400000	0.30750	0.127000	0.15790	0.202000	0.20498	0.456000	0.33151	TCC		0.647	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		3	16	0	0	0	0	3	16				
THADA	63892	broad.mit.edu	37	2	43801646	43801646	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:43801646C>G	ENST00000405006.4	-	11	1909	c.1558G>C	c.(1558-1560)Gac>Cac	p.D520H	THADA_ENST00000402360.2_Missense_Mutation_p.D520H|THADA_ENST00000404790.1_Missense_Mutation_p.D520H|THADA_ENST00000403856.1_Missense_Mutation_p.D520H|THADA_ENST00000330266.7_Missense_Mutation_p.D230H|THADA_ENST00000415080.2_Missense_Mutation_p.D230H|THADA_ENST00000405975.2_Missense_Mutation_p.D520H	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	520										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)				TGCCACTGGTCAATCCAAGAA	0.383																																						uc002rsw.3		NA																	0				ovary(2)|skin(1)	3						c.(1558-1560)GAC>CAC		thyroid adenoma associated							58.0	58.0	58.0					2																	43801646		1853	4096	5949	SO:0001583	missense	63892						binding	g.chr2:43801646C>G	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.1558G>C	2.37:g.43801646C>G	ENSP00000385995:p.Asp520His					THADA_uc002rsx.3_Missense_Mutation_p.D520H|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.D230H|THADA_uc002rta.2_Missense_Mutation_p.D230H|THADA_uc002rtb.1_Missense_Mutation_p.D520H|THADA_uc002rtc.3_Missense_Mutation_p.D520H|THADA_uc002rtd.2_Missense_Mutation_p.D520H	p.D520H	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			11	1910	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	520					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.1558G>C	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807040	0.70797	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.66280	1.34;1.34;1.34;1.34;-0.2;-0.2;1.34	5.94	5.94	0.96194	Armadillo-type fold (1);	0.207813	0.42682	D	0.000673	T	0.78194	0.4245	L	0.59436	1.845	0.39152	D	0.962247	D;D;D;D;D	0.89917	1.0;0.988;1.0;1.0;0.993	D;P;D;D;P	0.78314	0.991;0.8;0.965;0.922;0.72	T	0.79110	-0.1938	10	0.72032	D	0.01	-0.1283	20.3591	0.98849	0.0:1.0:0.0:0.0	.	520;520;520;230;520	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	H	230;520;520;230;520;520;520;520	ENSP00000331105:D230H;ENSP00000386088:D520H;ENSP00000416048:D230H;ENSP00000385995:D520H;ENSP00000385441:D520H;ENSP00000384266:D520H;ENSP00000385469:D520H	ENSP00000331105:D230H	D	-	1	0	THADA	43655150	1.000000	0.71417	0.930000	0.37139	0.913000	0.54294	3.714000	0.54889	2.816000	0.96949	0.561000	0.74099	GAC		0.383	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		11	53	0	0	0	0	11	53				
LHCGR	3973	broad.mit.edu	37	2	48914940	48914940	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:48914940C>A	ENST00000294954.7	-	11	2017	c.1996G>T	c.(1996-1998)Ggc>Tgc	p.G666C	LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.G639C|LHCGR_ENST00000344775.3_Missense_Mutation_p.G604C|LHCGR_ENST00000401907.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	666					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCAGTGAAGCCATTTTTGCAG	0.428																																						uc002rwu.3		NA																	0				ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1996-1998)GGC>TGC		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						120.0	119.0	119.0					2																	48914940		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48914940C>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1996G>T	2.37:g.48914940C>A	ENSP00000294954:p.Gly666Cys					GTF2A1L_uc002rwt.2_Intron	p.G666C	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	2066	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	666			Cytoplasmic (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1996G>T	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620016	0.46736	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.77098	-1.07;-0.93;-0.97	5.13	3.24	0.37175	.	0.704560	0.14416	N	0.320972	D	0.87370	0.6160	M	0.84585	2.705	0.32437	N	0.547192	D	0.89917	1.0	D	0.71414	0.973	D	0.87713	0.2568	9	.	.	.	.	10.1231	0.42632	0.0:0.7869:0.1367:0.0764	.	666	P22888	LSHR_HUMAN	C	604;666;639	ENSP00000344301:G604C;ENSP00000294954:G666C;ENSP00000386033:G639C	.	G	-	1	0	LHCGR	48768444	.	.	0.651000	0.29564	0.990000	0.78478	.	.	1.342000	0.45619	0.585000	0.79938	GGC		0.428	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		80	66	1	0	7.24e-40	1.28e-39	80	66				
FSHR	2492	broad.mit.edu	37	2	49189919	49189919	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:49189919C>T	ENST00000406846.2	-	10	2160	c.2041G>A	c.(2041-2043)Ggt>Agt	p.G681S	FSHR_ENST00000304421.4_Missense_Mutation_p.G655S|FSHR_ENST00000541117.1_Missense_Mutation_p.G417S|FSHR_ENST00000346173.3_Missense_Mutation_p.G619S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	681					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TAAGTGGAACCACTGGTGACT	0.413									Gonadal Dysgenesis, 46 XX																													uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(2041-2043)GGT>AGT		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						134.0	128.0	130.0					2																	49189919		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49189919C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.2041G>A	2.37:g.49189919C>T	ENSP00000384708:p.Gly681Ser					FSHR_uc002rwx.2_Missense_Mutation_p.G619S|FSHR_uc010fbn.2_Missense_Mutation_p.G655S	p.G681S	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	2115	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	681			Cytoplasmic (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.2041G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413687	0.25465	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.71461	-0.41;-0.53;-0.39;-0.57	5.1	1.73	0.24493	.	0.216505	0.38381	N	0.001710	T	0.54191	0.1843	L	0.33753	1.03	0.39616	D	0.969957	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.15870	0.004;0.014;0.006	T	0.39099	-0.9630	9	.	.	.	.	8.9019	0.35499	0.0:0.7195:0.0:0.2805	.	655;619;681	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	S	681;619;655;417	ENSP00000384708:G681S;ENSP00000333908:G619S;ENSP00000306780:G655S;ENSP00000444172:G417S	.	G	-	1	0	FSHR	49043423	0.084000	0.21492	0.215000	0.23724	0.832000	0.47134	0.906000	0.28517	0.213000	0.20722	0.655000	0.94253	GGT		0.413	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			6	109	0	0	0	0	6	109				
NRXN1	9378	broad.mit.edu	37	2	50573944	50573944	+	Intron	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:50573944C>A	ENST00000406316.2	-	18	4841				NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000342183.5_Silent_p.A48A|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000402717.3_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGCCCCCCACGCCACTCCTA	0.682																																						uc010fbp.2		NA																	0				ovary(2)	2						c.(142-144)GCG>GCT		neurexin 1 isoform beta precursor							54.0	44.0	47.0					2																	50573944		2203	4300	6503	SO:0001627	intron_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50573944C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3365-109836G>T	2.37:g.50573944C>A						NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	p.A48A	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		1	951	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	48					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.144G>T	CCDS54360.1																																																																																				0.682	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			19	13	1	0	5.35e-11	8.2e-11	19	13				
USP34	9736	broad.mit.edu	37	2	61566804	61566804	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:61566804T>C	ENST00000398571.2	-	17	2589	c.2513A>G	c.(2512-2514)cAt>cGt	p.H838R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	838					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGATGTTTATGAACTACAGG	0.318																																						uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(2512-2514)CAT>CGT		ubiquitin specific protease 34							64.0	56.0	58.0					2																	61566804		1808	4069	5877	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61566804T>C	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2513A>G	2.37:g.61566804T>C	ENSP00000381577:p.His838Arg						p.H838R	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		17	2535	-			838					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.2513A>G	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689691	0.48097	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03468	3.92	5.69	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.03915	0.0110	L	0.36672	1.1	0.58432	D	0.999994	B	0.12013	0.005	B	0.12156	0.007	T	0.44636	-0.9315	10	0.19590	T	0.45	.	12.1056	0.53810	0.1288:0.0:0.0:0.8712	.	838	Q70CQ2	UBP34_HUMAN	R	686;686;838	ENSP00000381577:H838R	ENSP00000263989:H686R	H	-	2	0	USP34	61420308	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	8.040000	0.89188	0.965000	0.38133	-0.710000	0.03640	CAT		0.318	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			15	34	0	0	0	0	15	34				
EIF2AK3	9451	broad.mit.edu	37	2	88870420	88870420	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:88870420C>A	ENST00000303236.3	-	14	3258	c.2957G>T	c.(2956-2958)gGg>gTg	p.G986V	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G835V|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'Flank	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	986	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						CAGTTTGGTCCCTACTTGTCC	0.473																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3		NA																	0				ovary(3)	3						c.(2956-2958)GGG>GTG		eukaryotic translation initiation factor 2-alpha							235.0	205.0	216.0					2																	88870420		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88870420C>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2957G>T	2.37:g.88870420C>A	ENSP00000307235:p.Gly986Val						p.G986V	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			14	3159	-			986			Cytoplasmic (Potential).|Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2957G>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175298	0.94807	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.34275	1.37;1.37;1.37	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73672	-0.3909	10	0.87932	D	0	-25.0296	20.2946	0.98546	0.0:1.0:0.0:0.0	.	986	Q9NZJ5	E2AK3_HUMAN	V	835;986;835;865	ENSP00000408325:G835V;ENSP00000307235:G986V;ENSP00000412076:G865V	ENSP00000307235:G986V	G	-	2	0	EIF2AK3	88651535	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.741000	0.84997	2.804000	0.96469	0.462000	0.41574	GGG		0.473	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		68	84	1	0	2.05e-36	3.6e-36	68	84				
SNRNP200	23020	broad.mit.edu	37	2	96944433	96944433	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:96944433G>C	ENST00000323853.5	-	38	5417	c.5340C>G	c.(5338-5340)caC>caG	p.H1780Q	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1780					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTCCGACAAGTGACGATGGG	0.577																																						uc002svu.2		NA																	0				ovary(5)|skin(4)|large_intestine(1)	10						c.(5338-5340)CAC>CAG		activating signal cointegrator 1 complex subunit							90.0	88.0	88.0					2																	96944433		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96944433G>C	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5340C>G	2.37:g.96944433G>C	ENSP00000317123:p.His1780Gln					SNRNP200_uc002svt.2_Missense_Mutation_p.H390Q|SNRNP200_uc010yuj.1_RNA	p.H1780Q	NM_014014	NP_054733	O75643	U520_HUMAN			38	5426	-			1780					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.5340C>G	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895984	0.52121	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	T	0.67698	-0.28	5.77	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.74258	2.255	0.80722	D	1	B	0.29571	0.249	B	0.30646	0.118	T	0.63409	-0.6644	10	0.49607	T	0.09	-22.1053	9.3988	0.38420	0.3078:0.0:0.6922:0.0	.	1780	O75643	U520_HUMAN	Q	1780;239;363	ENSP00000317123:H1780Q	ENSP00000317123:H1780Q	H	-	3	2	SNRNP200	96308160	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.539000	0.45718	0.870000	0.35726	0.655000	0.94253	CAC		0.577	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		27	51	0	0	0	0	27	51				
GLI2	2736	broad.mit.edu	37	2	121740372	121740372	+	Silent	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:121740372T>C	ENST00000452319.1	+	11	1659	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.Y533Y|GLI2_ENST00000314490.11_Silent_p.Y205Y					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)				AGAAGCCATATGTGTGTGAGC	0.617																																						uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(1597-1599)TAT>TAC		GLI-Kruppel family member GLI2							73.0	65.0	67.0					2																	121740372		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:121740372T>C		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.1599T>C	2.37:g.121740372T>C						GLI2_uc002tmq.1_Silent_p.Y205Y|GLI2_uc002tmr.1_Silent_p.Y188Y|GLI2_uc002tmt.3_Silent_p.Y205Y|GLI2_uc002tmu.3_Silent_p.Y188Y|GLI2_uc002tmw.1_Silent_p.Y516Y	p.Y533Y	NM_005270	NP_005261	P10070	GLI2_HUMAN			10	1629	+	Renal(3;0.0496)	Prostate(154;0.0623)	533			C2H2-type 4.			Silent	SNP	ENST00000452319.1	37	c.1599T>C	CCDS33283.1																																																																																				0.617	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		4	39	0	0	0	0	4	39				
LRP1B	53353	broad.mit.edu	37	2	141201897	141201897	+	Splice_Site	SNP	A	A	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:141201897A>C	ENST00000389484.3	-	65	11266		c.e65+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						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)		GAGGTGACTTACGACAGTCTC	0.328										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.e65+1		low density lipoprotein-related protein 1B							208.0	195.0	200.0					2																	141201897		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141201897A>C	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.10294+1T>G	2.37:g.141201897A>C		TSP Lung(27;0.18)					p.P3432_splice	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)	65	11266	-		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)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.10294_splice	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.526063	0.85600	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6246	0.76845	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140918367	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.087000	0.94110	2.272000	0.75746	0.460000	0.39030	.		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	60	27	0	0	0	0	60	27				
LRP1B	53353	broad.mit.edu	37	2	141232793	141232793	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:141232793G>T	ENST00000389484.3	-	60	10510	c.9539C>A	c.(9538-9540)aCa>aAa	p.T3180K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3180					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)		ATAATCTATTGTTAGTGCCAT	0.408										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.(9538-9540)ACA>AAA		low density lipoprotein-related protein 1B							116.0	105.0	109.0					2																	141232793		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141232793G>T	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.9539C>A	2.37:g.141232793G>T	ENSP00000374135:p.Thr3180Lys	TSP Lung(27;0.18)					p.T3180K	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)	60	10511	-		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)	3180			Extracellular (Potential).|LDL-receptor class B 30.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9539C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519782	0.85495	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94931	-3.56	5.63	5.63	0.86233	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	H	0.94808	3.585	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.98939	1.0790	10	0.87932	D	0	.	19.666	0.95893	0.0:0.0:1.0:0.0	.	3180	Q9NZR2	LRP1B_HUMAN	K	3180;3118	ENSP00000374135:T3180K	ENSP00000374135:T3180K	T	-	2	0	LRP1B	140949263	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.934000	0.87649	2.653000	0.90120	0.650000	0.86243	ACA		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		72	29	1	0	1.59e-42	2.81e-42	72	29				
SCN1A	6323	broad.mit.edu	37	2	166898884	166898884	+	Missense_Mutation	SNP	G	G	T	rs372260058		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:166898884G>T	ENST00000303395.4	-	12	2093	c.2094C>A	c.(2092-2094)caC>caA	p.H698Q	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.H687Q|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.H670Q|SCN1A_ENST00000423058.2_Missense_Mutation_p.H698Q			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	698					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCATGGAAACGTGGAAAGAAC	0.358																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(2059-2061)CAC>CAA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						147.0	141.0	143.0					2																	166898884		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166898884G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2094C>A	2.37:g.166898884G>T	ENSP00000303540:p.His698Gln					SCN1A_uc002udo.3_Missense_Mutation_p.H567Q|SCN1A_uc010fpk.2_Missense_Mutation_p.H539Q	p.H687Q	NM_006920	NP_008851	P35498	SCN1A_HUMAN			12	2079	-			698					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2061C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	9.490	1.100491	0.20552	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	5.82	-1.27	0.09347	Domain of unknown function DUF3451 (1);	0.081014	0.53938	N	0.000053	T	0.69717	0.3142	N	0.04090	-0.28	0.38410	D	0.945917	B;B;B	0.21688	0.0;0.0;0.059	B;B;B	0.17098	0.001;0.001;0.017	T	0.50423	-0.8830	10	0.18276	T	0.48	.	0.9459	0.01365	0.4228:0.1113:0.2504:0.2155	.	687;670;698	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Q	698;698;687;670	ENSP00000407030:H698Q;ENSP00000303540:H698Q;ENSP00000364554:H687Q;ENSP00000386312:H670Q	ENSP00000303540:H698Q	H	-	3	2	SCN1A	166607130	0.697000	0.27767	0.997000	0.53966	0.967000	0.64934	-0.032000	0.12266	-0.136000	0.11475	-0.238000	0.12139	CAC		0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		46	22	1	0	1.75e-18	2.89e-18	46	22				
XIRP2	129446	broad.mit.edu	37	2	168107605	168107605	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:168107605C>T	ENST00000409195.1	+	9	9792	c.9703C>T	c.(9703-9705)Cca>Tca	p.P3235S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3235S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P3013S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3060					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAGGGACTCTCCACCTACAAT	0.438																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(9703-9705)CCA>TCA		xin actin-binding repeat containing 2 isoform 1							61.0	57.0	58.0					2																	168107605		1872	4125	5997	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107605C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9703C>T	2.37:g.168107605C>T	ENSP00000386840:p.Pro3235Ser					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P3060S|XIRP2_uc010fpq.2_Missense_Mutation_p.P3013S|XIRP2_uc010fpr.2_Intron	p.P3235S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9721	+			3060					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9703C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	9.002	0.980451	0.18812	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02236	4.38;4.38;4.38	5.04	2.25	0.28309	.	0.611875	0.16479	N	0.212608	T	0.02767	0.0083	L	0.60455	1.87	0.30323	N	0.787427	P;P;B	0.42296	0.666;0.775;0.077	B;B;B	0.39660	0.162;0.306;0.046	T	0.27123	-1.0083	10	0.46703	T	0.11	-5.3061	3.8201	0.08832	0.0:0.5517:0.1928:0.2555	.	3060;3060;3013	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	3235;3235;3013;649	ENSP00000386840:P3235S;ENSP00000295237:P3235S;ENSP00000387255:P3013S	ENSP00000295237:P3235S	P	+	1	0	XIRP2	167815851	0.001000	0.12720	0.982000	0.44146	0.895000	0.52256	-0.136000	0.10405	0.777000	0.33496	0.460000	0.39030	CCA		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		35	16	0	0	0	0	35	16				
TTN	7273	broad.mit.edu	37	2	179498188	179498188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:179498188C>T	ENST00000591111.1	-	182	38199	c.37975G>A	c.(37975-37977)Gtg>Atg	p.V12659M	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V5427M|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11732M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5360M|TTN_ENST00000460472.2_Missense_Mutation_p.V5235M|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V14300M			Q8WZ42	TITIN_HUMAN	titin	12659	Ig-like 84.				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)			CAGTCACACACATATTCGCCT	0.413																																						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.(35194-35196)GTG>ATG		titin isoform N2-A							114.0	107.0	109.0					2																	179498188		1898	4114	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498188C>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.37975G>A	2.37:g.179498188C>T	ENSP00000465570:p.Val12659Met					TTN_uc010zfh.1_Missense_Mutation_p.V5427M|TTN_uc010zfi.1_Missense_Mutation_p.V5360M|TTN_uc010zfj.1_Missense_Mutation_p.V5235M	p.V11732M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		181	35418	-			12659					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.35194G>A		.	.	.	.	.	.	.	.	.	.	C	8.946	0.966973	0.18659	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.17	-2.35	0.06684	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32882	0.0844	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.14578	0.006;0.006;0.011;0.011	T	0.41698	-0.9494	9	0.87932	D	0	.	7.9269	0.29880	0.1015:0.506:0.0:0.3925	.	5235;5360;5427;12659	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	11732;5235;5427;5360;5235	ENSP00000343764:V11732M;ENSP00000434586:V5235M;ENSP00000340554:V5427M;ENSP00000352154:V5360M	ENSP00000340554:V5427M	V	-	1	0	TTN	179206433	0.000000	0.05858	0.473000	0.27253	0.944000	0.59088	0.477000	0.22196	-0.095000	0.12351	-0.345000	0.07892	GTG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	22	0	0	0	0	52	22				
ZNF804A	91752	broad.mit.edu	37	2	185803233	185803233	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:185803233C>T	ENST00000302277.6	+	4	3704	c.3110C>T	c.(3109-3111)cCa>cTa	p.P1037L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1037							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATTGATCCCACTAGAAAAC	0.413																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3109-3111)CCA>CTA		zinc finger protein 804A							72.0	70.0	71.0					2																	185803233		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803233C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3110C>T	2.37:g.185803233C>T	ENSP00000303252:p.Pro1037Leu						p.P1037L	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3704	+			1037					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3110C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025390	0.54683	.	.	ENSG00000170396	ENST00000302277	T	0.07908	3.15	5.09	5.09	0.68999	.	0.000000	0.45606	D	0.000359	T	0.10809	0.0264	L	0.57536	1.79	0.44937	D	0.997951	P	0.48503	0.911	B	0.42916	0.402	T	0.07809	-1.0753	10	0.30078	T	0.28	-12.3551	11.026	0.47744	0.0:0.9146:0.0:0.0854	.	1037	Q7Z570	Z804A_HUMAN	L	1037	ENSP00000303252:P1037L	ENSP00000303252:P1037L	P	+	2	0	ZNF804A	185511478	0.993000	0.37304	0.984000	0.44739	0.858000	0.48976	4.790000	0.62453	2.354000	0.79902	0.467000	0.42956	CCA		0.413	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		69	23	0	0	0	0	69	23				
COL5A2	1290	broad.mit.edu	37	2	189925481	189925481	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:189925481C>A	ENST00000374866.3	-	31	2334	c.2060G>T	c.(2059-2061)gGa>gTa	p.G687V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	687					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCACCTTCTCCAGGAGGCCC	0.383																																						uc002uqk.2		NA																	0				ovary(2)	2						c.(2059-2061)GGA>GTA		alpha 2 type V collagen preproprotein							72.0	75.0	74.0					2																	189925481		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189925481C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2060G>T	2.37:g.189925481C>A	ENSP00000364000:p.Gly687Val					COL5A2_uc010frx.2_Missense_Mutation_p.G263V	p.G687V	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		31	2335	-			687					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2060G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104918	0.77096	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99637	-6.29	5.81	5.81	0.92471	.	0.000000	0.47455	D	0.000222	D	0.99792	0.9912	H	0.97611	4.04	0.80722	D	1	D;D	0.58268	0.982;0.981	P;P	0.62740	0.784;0.906	D	0.97189	0.9856	9	.	.	.	.	20.0734	0.97734	0.0:1.0:0.0:0.0	.	327;687	Q5PR22;P05997	.;CO5A2_HUMAN	V	687;327	ENSP00000364000:G687V	.	G	-	2	0	COL5A2	189633726	1.000000	0.71417	0.968000	0.41197	0.950000	0.60333	7.617000	0.83032	2.751000	0.94390	0.555000	0.69702	GGA		0.383	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		29	16	1	0	2.22e-23	3.78e-23	29	16				
COQ10B	80219	broad.mit.edu	37	2	198334873	198334873	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:198334873G>T	ENST00000263960.2	+	4	665	c.527G>T	c.(526-528)aGa>aTa	p.R176I	COQ10B_ENST00000409010.1_Missense_Mutation_p.R148I|COQ10B_ENST00000545340.1_Missense_Mutation_p.R133I|COQ10B_ENST00000409398.1_Missense_Mutation_p.R126I	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	176						mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGCTACCCAAGAACTTGTACC	0.358																																						uc002uuh.1		NA																	0					0						c.(526-528)AGA>ATA		coenzyme Q10 homolog B precursor							124.0	110.0	115.0					2																	198334873		2203	4300	6503	SO:0001583	missense	80219					mitochondrial inner membrane		g.chr2:198334873G>T	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.527G>T	2.37:g.198334873G>T	ENSP00000263960:p.Arg176Ile					COQ10B_uc010fsl.1_Missense_Mutation_p.R148I	p.R176I	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		4	581	+			176					B7Z1Y4	Missense_Mutation	SNP	ENST00000263960.2	37	c.527G>T	CCDS2319.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149817	0.94645	.	.	ENSG00000115520	ENST00000263960;ENST00000409398;ENST00000545340;ENST00000409010	T;T;T;T	0.48522	1.76;0.81;1.8;1.79	5.14	5.14	0.70334	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	M	0.82823	2.61	0.80722	D	1	D;D	0.58620	0.983;0.965	P;D	0.63703	0.808;0.917	T	0.74990	-0.3475	10	0.56958	D	0.05	-18.9443	18.595	0.91227	0.0:0.0:1.0:0.0	.	148;176	B8ZZV9;Q9H8M1	.;CQ10B_HUMAN	I	176;126;133;148	ENSP00000263960:R176I;ENSP00000386785:R126I;ENSP00000442520:R133I;ENSP00000387223:R148I	ENSP00000263960:R176I	R	+	2	0	COQ10B	198043118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.810000	0.99221	2.380000	0.81148	0.650000	0.86243	AGA		0.358	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	NM_025147		8	38	1	0	5.49e-09	8.11e-09	8	38				
SPAG16	79582	broad.mit.edu	37	2	215275038	215275038	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:215275038G>C	ENST00000331683.5	+	16	1990	c.1895G>C	c.(1894-1896)tGa>tCa	p.*632S	AC107218.3_ENST00000437883.1_RNA|SPAG16_ENST00000374309.3_Nonstop_Mutation_p.*538S|VWC2L_ENST00000312504.5_5'Flank|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_5'Flank	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	0					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACGTGGTCTTGACCGTCAGCA	0.527																																						uc002veq.2		NA																	0				ovary(1)|skin(1)	2						c.(1894-1896)TGA>TCA		sperm associated antigen 16 isoform 1							97.0	92.0	94.0					2																	215275038		2203	4300	6503	SO:0001578	stop_lost	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215275038G>C	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1895G>C	2.37:g.215275038G>C	ENSP00000332592:p.*632Serext*15					SPAG16_uc002ver.2_Nonstop_Mutation_p.*578S|SPAG16_uc010zjk.1_Nonstop_Mutation_p.*538S|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	p.*632S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	16	1987	+		Renal(323;0.00461)	632					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Nonstop_Mutation	SNP	ENST00000331683.5	37	c.1895G>C	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586767	0.66105	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	.	.	.	5.63	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0675	0.42313	0.1566:0.0:0.8434:0.0	.	.	.	.	S	632;538;256	.	.	X	+	2	2	SPAG16	214983283	1.000000	0.71417	0.982000	0.44146	0.741000	0.42261	2.464000	0.45067	1.525000	0.49052	0.563000	0.77884	TGA		0.527	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		16	68	0	0	0	0	16	68				
SPHKAP	80309	broad.mit.edu	37	2	228973575	228973575	+	Silent	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:228973575T>A	ENST00000392056.3	-	3	265	c.219A>T	c.(217-219)gtA>gtT	p.V73V	SPHKAP_ENST00000344657.5_Silent_p.V73V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	73						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTTGTCTTCTACAAAACCAA	0.468																																						uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(217-219)GTA>GTT		sphingosine kinase type 1-interacting protein							86.0	86.0	86.0					2																	228973575		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228973575T>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.219A>T	2.37:g.228973575T>A						SPHKAP_uc002vpp.2_Silent_p.V73V|SPHKAP_uc010zlx.1_Silent_p.V73V	p.V73V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	3	266	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	73					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.219A>T	CCDS46537.1																																																																																				0.468	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		69	37	0	0	0	0	69	37				
COL6A3	1293	broad.mit.edu	37	2	238242092	238242092	+	Splice_Site	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:238242092C>T	ENST00000295550.4	-	42	9781		c.e42+1		COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACAACTCACCTGTTTCAGT	0.448																																						uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.e42+1		alpha 3 type VI collagen isoform 1 precursor							91.0	85.0	87.0					2																	238242092		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238242092C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9328+1G>A	2.37:g.238242092C>T						COL6A3_uc002vwo.2_Splice_Site_p.D2904_splice|COL6A3_uc010znj.1_Splice_Site_p.D2503_splice|COL6A3_uc002vwj.2_Splice_Site_p.D491_splice	p.D3110_splice	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	42	9613	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)						A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37	c.9328_splice	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601023	0.66332	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2558	0.82516	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL6A3	237906831	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.548000	0.60718	2.438000	0.82558	0.650000	0.86243	.		0.448	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Intron	45	16	0	0	0	0	45	16				
PASK	23178	broad.mit.edu	37	2	242079332	242079332	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:242079332C>T	ENST00000405260.1	-	4	1266	c.568G>A	c.(568-570)Gac>Aac	p.D190N	PASK_ENST00000358649.4_Missense_Mutation_p.D190N|PASK_ENST00000403638.3_Missense_Mutation_p.D190N|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.D190N	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	190	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCGTGGCCGTCGGCCTCCATG	0.607																																						uc002wao.1		NA																	0				ovary(4)|lung(1)|skin(1)	6						c.(568-570)GAC>AAC		PAS domain containing serine/threonine kinase							71.0	62.0	65.0					2																	242079332		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242079332C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.568G>A	2.37:g.242079332C>T	ENSP00000384016:p.Asp190Asn					PASK_uc010zol.1_Intron|PASK_uc010zom.1_Missense_Mutation_p.D190N|PASK_uc010fzl.1_Missense_Mutation_p.D190N|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.D190N	p.D190N	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	4	660	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	190			PAS 1.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.568G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256042	0.59321	.	.	ENSG00000115687	ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638	D;D;D;D	0.99532	-6.1;-6.1;-6.1;-6.1	4.61	4.61	0.57282	PAS (2);PAS fold (1);	0.000000	0.56097	D	0.000035	D	0.99477	0.9814	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.77004	0.984;0.972;0.989;0.984	D	0.98249	1.0492	10	0.87932	D	0	.	14.3729	0.66854	0.0:1.0:0.0:0.0	.	190;190;190;190	B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;PASK_HUMAN	N	190	ENSP00000234040:D190N;ENSP00000384016:D190N;ENSP00000351475:D190N;ENSP00000384438:D190N	ENSP00000234040:D190N	D	-	1	0	PASK	241728005	0.659000	0.27411	0.415000	0.26534	0.147000	0.21601	1.827000	0.39102	2.126000	0.65437	0.491000	0.48974	GAC		0.607	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		5	44	0	0	0	0	5	44				
TPX2	22974	broad.mit.edu	37	20	30366776	30366776	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:30366776A>G	ENST00000300403.6	+	10	1571	c.1043A>G	c.(1042-1044)aAg>aGg	p.K348R	TPX2_ENST00000340513.4_Missense_Mutation_p.K348R	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	348					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AGGAGCAAGAAGGATGATATT	0.403																																						uc002wwp.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1042-1044)AAG>AGG		TPX2, microtubule-associated protein homolog							88.0	82.0	84.0					20																	30366776		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30366776A>G	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1043A>G	20.37:g.30366776A>G	ENSP00000300403:p.Lys348Arg					TPX2_uc010gdv.1_Missense_Mutation_p.K348R	p.K348R	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		10	1741	+			348					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1043A>G	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781823	0.49891	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.35789	1.29	4.93	4.93	0.64822	.	0.324218	0.32548	N	0.005947	T	0.42040	0.1185	L	0.54323	1.7	0.36652	D	0.877448	D;P	0.56521	0.976;0.473	P;B	0.49922	0.626;0.091	T	0.50642	-0.8804	10	0.41790	T	0.15	-20.7776	12.3591	0.55192	1.0:0.0:0.0:0.0	.	348;348	Q96RR5;Q9ULW0	.;TPX2_HUMAN	R	348	ENSP00000341145:K348R	ENSP00000300403:K348R	K	+	2	0	TPX2	29830437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.394000	0.59671	2.194000	0.70268	0.533000	0.62120	AAG		0.403	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			5	31	0	0	0	0	5	31				
TM9SF4	9777	broad.mit.edu	37	20	30749133	30749133	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:30749133G>C	ENST00000398022.2	+	17	1979	c.1744G>C	c.(1744-1746)Gtc>Ctc	p.V582L	TM9SF4_ENST00000217315.5_Missense_Mutation_p.V565L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	582						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCATTCTACGTCCTGGTTTA	0.517																																						uc002wxj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1744-1746)GTC>CTC		transmembrane 9 superfamily protein member 4							200.0	170.0	180.0					20																	30749133		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30749133G>C	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1744G>C	20.37:g.30749133G>C	ENSP00000381104:p.Val582Leu					TM9SF4_uc010zts.1_Missense_Mutation_p.V489L|TM9SF4_uc002wxk.2_Missense_Mutation_p.V565L|TM9SF4_uc010gdz.2_Missense_Mutation_p.V461L	p.V582L	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		17	1979	+			582			Helical; (Potential).		B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1744G>C	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559754	0.45590	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.48836	0.8;0.8	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	L	0.48218	1.51	0.80722	D	1	B;P	0.39044	0.02;0.656	B;P	0.48840	0.063;0.592	T	0.35201	-0.9798	10	0.02654	T	1	-29.6225	18.9705	0.92713	0.0:0.0:1.0:0.0	.	489;582	B4DH88;Q92544	.;TM9S4_HUMAN	L	582;565	ENSP00000381104:V582L;ENSP00000217315:V565L	ENSP00000217315:V565L	V	+	1	0	TM9SF4	30212794	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.175000	0.94831	2.715000	0.92844	0.655000	0.94253	GTC		0.517	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		28	45	0	0	0	0	28	45				
NCOA3	8202	broad.mit.edu	37	20	46281792	46281792	+	Silent	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:46281792T>C	ENST00000371998.3	+	22	4430	c.4239T>C	c.(4237-4239)tcT>tcC	p.S1413S	NCOA3_ENST00000372004.3_Silent_p.S1409S|NCOA3_ENST00000371997.3_Silent_p.S1404S|NCOA3_ENST00000341724.6_Silent_p.S1339S			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1413	Met-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCCCATGTCTGGCATGCCTA	0.463																																						uc002xtk.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(4237-4239)TCT>TCC		nuclear receptor coactivator 3 isoform a							132.0	114.0	120.0					20																	46281792		2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46281792T>C	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.4239T>C	20.37:g.46281792T>C						NCOA3_uc002xtl.2_Silent_p.S1409S|NCOA3_uc002xtm.2_Silent_p.S1408S|NCOA3_uc002xtn.2_Silent_p.S1412S|NCOA3_uc010zyc.1_Silent_p.S1208S	p.S1413S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			22	4444	+			1413			Met-rich.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.4239T>C	CCDS13407.1																																																																																				0.463	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		44	49	0	0	0	0	44	49				
SLC9A8	23315	broad.mit.edu	37	20	48491309	48491309	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:48491309C>A	ENST00000361573.2	+	11	1068	c.1026C>A	c.(1024-1026)gtC>gtA	p.V342V	SLC9A8_ENST00000417961.1_Silent_p.V358V|SLC9A8_ENST00000541138.1_Silent_p.V42V|SLC9A8_ENST00000539601.1_Silent_p.V123V			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	342					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCTCCCCAGTCACCCAGATCC	0.557																																						uc002xuv.1		NA																	0				ovary(1)	1						c.(1024-1026)GTC>GTA		sodium/hydrogen exchanger 8							307.0	219.0	249.0					20																	48491309		2203	4300	6503	SO:0001819	synonymous_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48491309C>A	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1026C>A	20.37:g.48491309C>A						SLC9A8_uc010zym.1_Silent_p.V42V|SLC9A8_uc010gic.2_Silent_p.V42V|SLC9A8_uc010gid.2_Intron	p.V342V	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		11	1236	+			342					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	c.1026C>A	CCDS13421.1																																																																																				0.557	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		34	81	1	0	1.3e-28	2.24e-28	34	81				
SLC9A8	23315	broad.mit.edu	37	20	48494548	48494548	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:48494548C>T	ENST00000361573.2	+	12	1148	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	SLC9A8_ENST00000417961.1_Missense_Mutation_p.S385F|SLC9A8_ENST00000541138.1_Missense_Mutation_p.S69F|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S150F			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	369					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CTTGGCCTGTCCATTTTTAGT	0.294																																						uc002xuv.1		NA																	0				ovary(1)	1						c.(1105-1107)TCC>TTC		sodium/hydrogen exchanger 8							277.0	252.0	260.0					20																	48494548		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48494548C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1106C>T	20.37:g.48494548C>T	ENSP00000354966:p.Ser369Phe					SLC9A8_uc010zym.1_Missense_Mutation_p.S69F|SLC9A8_uc010gic.2_Missense_Mutation_p.S69F|SLC9A8_uc010gid.2_Intron	p.S369F	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		12	1316	+			369			Helical; (Potential).		B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.1106C>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808752	0.90707	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.64	5.64	0.86602	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.64170	1.965	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.68943	0.961;0.961	T	0.16070	-1.0415	10	0.87932	D	0	.	19.7137	0.96107	0.0:1.0:0.0:0.0	.	150;369	B4DIX7;Q9Y2E8	.;SL9A8_HUMAN	F	385;369;69;150	ENSP00000416418:S385F;ENSP00000354966:S369F;ENSP00000441615:S69F;ENSP00000441716:S150F	ENSP00000354966:S369F	S	+	2	0	SLC9A8	47927955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.647000	0.83462	2.655000	0.90218	0.462000	0.41574	TCC		0.294	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		23	63	0	0	0	0	23	63				
GMEB2	26205	broad.mit.edu	37	20	62234382	62234382	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr20:62234382T>C	ENST00000266068.1	-	3	771	c.293A>G	c.(292-294)gAc>gGc	p.D98G	GMEB2_ENST00000370077.1_Missense_Mutation_p.D98G|GMEB2_ENST00000370069.1_Missense_Mutation_p.D47G			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	98	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGCTCTGCTGTCTCCACAGGT	0.532																																						uc002yfp.1		NA																	0					0						c.(292-294)GAC>GGC		glucocorticoid modulatory element binding							183.0	152.0	162.0					20																	62234382		2203	4300	6503	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62234382T>C	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.293A>G	20.37:g.62234382T>C	ENSP00000266068:p.Asp98Gly					GMEB2_uc002yfo.1_Missense_Mutation_p.D20G|GMEB2_uc002yfq.1_Missense_Mutation_p.D98G	p.D98G	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		3	772	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		98			SAND.		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.293A>G	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.473243	0.84640	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.73363	-0.74;-0.74;-0.74	4.84	4.84	0.62591	SAND domain-like (2);SAND domain (3);	0.056778	0.64402	D	0.000002	T	0.80633	0.4660	L	0.42245	1.32	0.58432	D	0.999998	D	0.67145	0.996	D	0.72075	0.976	T	0.80054	-0.1543	10	0.39692	T	0.17	-9.1754	14.438	0.67296	0.0:0.0:0.0:1.0	.	98	Q9UKD1	GMEB2_HUMAN	G	47;98;98	ENSP00000359086:D47G;ENSP00000359094:D98G;ENSP00000266068:D98G	ENSP00000266068:D98G	D	-	2	0	GMEB2	61704826	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.112000	0.71547	1.799000	0.52666	0.533000	0.62120	GAC		0.532	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		23	88	0	0	0	0	23	88				
ADAMTS1	9510	broad.mit.edu	37	21	28212319	28212319	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:28212319C>A	ENST00000284984.3	-	6	2181	c.1727G>T	c.(1726-1728)gGt>gTt	p.G576V		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	576	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GACTCCTCCACCGCACGTTCT	0.493																																						uc002ymf.2		NA																	0				lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(1726-1728)GGT>GTT		ADAM metallopeptidase with thrombospondin type 1							123.0	101.0	108.0					21																	28212319		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212319C>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1727G>T	21.37:g.28212319C>A	ENSP00000284984:p.Gly576Val						p.G576V	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	6	2182	-		Breast(209;0.000962)	576			TSP type-1 1.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1727G>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174418	0.57692	.	.	ENSG00000154734	ENST00000284984	T	0.71341	-0.56	5.11	5.11	0.69529	.	.	.	.	.	D	0.90229	0.6945	H	0.99325	4.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92844	0.6291	9	0.87932	D	0	.	12.4193	0.55512	0.0:0.9236:0.0:0.0764	.	576	Q9UHI8	ATS1_HUMAN	V	576	ENSP00000284984:G576V	ENSP00000284984:G576V	G	-	2	0	ADAMTS1	27134190	1.000000	0.71417	0.996000	0.52242	0.251000	0.25915	5.624000	0.67764	2.826000	0.97356	0.655000	0.94253	GGT		0.493	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			20	76	1	0	8.01e-06	1.13e-05	20	76				
TIAM1	7074	broad.mit.edu	37	21	32624279	32624279	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:32624279T>C	ENST00000286827.3	-	6	1661	c.1190A>G	c.(1189-1191)aAc>aGc	p.N397S	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.N397S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	397					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCTCTCGCTGTTGGTGGTGCT	0.687																																						uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(1189-1191)AAC>AGC		T-cell lymphoma invasion and metastasis 1							38.0	44.0	42.0					21																	32624279		2203	4299	6502	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32624279T>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1190A>G	21.37:g.32624279T>C	ENSP00000286827:p.Asn397Ser					TIAM1_uc011adk.1_Missense_Mutation_p.N397S|TIAM1_uc011adl.1_Missense_Mutation_p.N397S|TIAM1_uc002yox.1_Missense_Mutation_p.N5S	p.N397S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			6	1662	-			397					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1190A>G	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.685866	0.47991	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.41065	1.02;1.01	4.73	4.73	0.59995	.	0.411513	0.28914	N	0.013736	T	0.28034	0.0691	N	0.21097	0.63	0.38276	D	0.942306	B;B;B;B	0.13594	0.008;0.005;0.005;0.003	B;B;B;B	0.10450	0.005;0.002;0.002;0.002	T	0.14671	-1.0464	10	0.45353	T	0.12	.	8.9847	0.35986	0.0:0.0826:0.0:0.9174	.	397;397;238;397	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	S	397;238;397	ENSP00000286827:N397S;ENSP00000441570:N397S	ENSP00000286827:N397S	N	-	2	0	TIAM1	31546150	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.491000	0.66887	1.967000	0.57214	0.460000	0.39030	AAC		0.687	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		18	29	0	0	0	0	18	29				
GART	2618	broad.mit.edu	37	21	34878305	34878305	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr21:34878305C>T	ENST00000381831.3	-	19	2822	c.2559G>A	c.(2557-2559)gcG>gcA	p.A853A	GART_ENST00000543717.1_Silent_p.A405A|GART_ENST00000381815.4_Silent_p.A853A|GART_ENST00000381839.3_Silent_p.A853A	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	853	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAGCTCTTTCCGCTTTATCTA	0.443																																						uc002yrx.2		NA																	0				ovary(1)	1						c.(2557-2559)GCG>GCA		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						137.0	124.0	128.0					21																	34878305		2203	4300	6503	SO:0001819	synonymous_variant	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34878305C>T	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2559G>A	21.37:g.34878305C>T						GART_uc002yrz.2_Silent_p.A853A|GART_uc010gmd.2_Silent_p.A515A|GART_uc002yry.2_Silent_p.A853A	p.A853A	NM_000819	NP_000810	P22102	PUR2_HUMAN			19	2694	-			853			GART.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	ENST00000381831.3	37	c.2559G>A	CCDS13627.1																																																																																				0.443	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		6	55	0	0	0	0	6	55				
FBXO7	25793	broad.mit.edu	37	22	32894169	32894169	+	Silent	SNP	G	G	A	rs201127594	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:32894169G>A	ENST00000266087.7	+	9	1548	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	FBXO7_ENST00000382058.3_Silent_p.P328P|FBXO7_ENST00000397426.1_Silent_p.P293P	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	407	Important for interaction with CDK6.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAATCCCCGAAAGGGCGGT	0.458													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18582	0.0		0.0	False		,,,				2504	0.0					uc003amq.2		NA																	0				ovary(1)	1						c.(1219-1221)CCG>CCA		F-box only protein 7 isoform 1							145.0	146.0	146.0					22																	32894169		2203	4300	6503	SO:0001819	synonymous_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894169G>A	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1221G>A	22.37:g.32894169G>A						FBXO7_uc003amr.2_Silent_p.P293P|FBXO7_uc003ams.2_Silent_p.P251P|FBXO7_uc003amt.2_Silent_p.P328P|FBXO7_uc003amu.2_Silent_p.P293P|FBXO7_uc003amv.2_Silent_p.P106P	p.P407P	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN			9	1504	+			407					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	ENST00000266087.7	37	c.1221G>A	CCDS13907.1																																																																																				0.458	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			30	112	0	0	0	0	30	112				
NPTXR	23467	broad.mit.edu	37	22	39224292	39224292	+	Splice_Site	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:39224292C>G	ENST00000333039.2	-	2	973	c.850G>C	c.(850-852)Ggg>Cgg	p.G284R		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	284						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CAGGACCCACCGTGCTCCAGC	0.602																																					Pancreas(139;2521 3281 36965)	uc003awk.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(850-852)GGG>CGG		neuronal pentraxin receptor							75.0	57.0	63.0					22																	39224292		2203	4300	6503	SO:0001630	splice_region_variant	23467					integral to membrane	metal ion binding	g.chr22:39224292C>G	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.850+1G>C	22.37:g.39224292C>G							p.G284R	NM_014293	NP_055108	O95502	NPTXR_HUMAN			2	1004	-	Melanoma(58;0.04)		284			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000333039.2	37	c.850G>C	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711571	0.68730	.	.	ENSG00000221890	ENST00000333039	T	0.11277	2.79	5.69	5.69	0.88448	.	0.130812	0.53938	D	0.000058	T	0.34106	0.0886	M	0.68952	2.095	0.42359	D	0.992400	D	0.89917	1.0	D	0.97110	1.0	T	0.00534	-1.1684	8	.	.	.	-48.6902	19.8052	0.96529	0.0:1.0:0.0:0.0	.	284	O95502	NPTXR_HUMAN	R	284	ENSP00000327545:G284R	.	G	-	1	0	NPTXR	37554238	0.999000	0.42202	0.964000	0.40570	0.497000	0.33675	4.104000	0.57790	2.688000	0.91661	0.561000	0.74099	GGG		0.602	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293	Missense_Mutation	15	37	0	0	0	0	15	37				
KLHDC7B	113730	broad.mit.edu	37	22	50987660	50987660	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr22:50987660C>T	ENST00000395676.2	+	1	1199	c.1065C>T	c.(1063-1065)taC>taT	p.Y355Y	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	355										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCACAACTACCTGTTTCTGG	0.647																																						uc003bmi.2		NA																	0				central_nervous_system(1)	1						c.(1063-1065)TAC>TAT		kelch domain containing 7B							44.0	54.0	51.0					22																	50987660		2119	4158	6277	SO:0001819	synonymous_variant	113730							g.chr22:50987660C>T	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1065C>T	22.37:g.50987660C>T							p.Y355Y	NM_138433	NP_612442	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1199	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	355			Kelch 2.			Silent	SNP	ENST00000395676.2	37	c.1065C>T	CCDS14097.2																																																																																				0.647	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		31	83	0	0	0	0	31	83				
TGM4	7047	broad.mit.edu	37	3	44951648	44951648	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:44951648G>A	ENST00000296125.4	+	11	1462	c.1394G>A	c.(1393-1395)aGa>aAa	p.R465K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	465					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGGGAGCACAGACGACCTGTA	0.478																																						uc003coc.3		NA																	0				ovary(1)	1						c.(1393-1395)AGA>AAA		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						68.0	68.0	68.0					3																	44951648		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44951648G>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1394G>A	3.37:g.44951648G>A	ENSP00000296125:p.Arg465Lys						p.R465K	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	11	1467	+			465					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1394G>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.160957	0.01673	.	.	ENSG00000163810	ENST00000296125	T	0.79940	-1.32	2.6	-5.2	0.02823	.	2.639670	0.02623	U	0.103427	T	0.61211	0.2329	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.45483	-0.9258	10	0.22109	T	0.4	.	1.2695	0.02018	0.4603:0.2298:0.1628:0.147	.	465	P49221	TGM4_HUMAN	K	465	ENSP00000296125:R465K	ENSP00000296125:R465K	R	+	2	0	TGM4	44926652	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.994000	0.03716	-1.639000	0.01527	-0.518000	0.04402	AGA		0.478	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		22	30	0	0	0	0	22	30				
TGM4	7047	broad.mit.edu	37	3	44952515	44952515	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:44952515G>C	ENST00000296125.4	+	12	1740	c.1672G>C	c.(1672-1674)Gag>Cag	p.E558Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	558					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATTAGATGATGAGCCAGTTAT	0.458																																						uc003coc.3		NA																	0				ovary(1)	1						c.(1672-1674)GAG>CAG		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						121.0	110.0	114.0					3																	44952515		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44952515G>C	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1672G>C	3.37:g.44952515G>C	ENSP00000296125:p.Glu558Gln						p.E558Q	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	12	1745	+			558					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1672G>C	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185916	0.21870	.	.	ENSG00000163810	ENST00000296125	T	0.73047	-0.71	2.88	2.88	0.33553	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.44688	U	0.000424	T	0.47395	0.1443	N	0.08118	0	0.41794	D	0.989889	B	0.28998	0.23	B	0.27715	0.082	T	0.43032	-0.9416	10	0.20046	T	0.44	.	12.7168	0.57119	0.0:0.0:1.0:0.0	.	558	P49221	TGM4_HUMAN	Q	558	ENSP00000296125:E558Q	ENSP00000296125:E558Q	E	+	1	0	TGM4	44927519	0.980000	0.34600	0.051000	0.19133	0.019000	0.09904	1.423000	0.34837	1.529000	0.49120	0.563000	0.77884	GAG		0.458	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		21	45	0	0	0	0	21	45				
SACM1L	22908	broad.mit.edu	37	3	45776775	45776775	+	Silent	SNP	C	C	T	rs138504596		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:45776775C>T	ENST00000389061.5	+	14	1353	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	SACM1L_ENST00000418611.1_Silent_p.G280G|SACM1L_ENST00000541314.1_Silent_p.G322G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	383	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		ACCAGGAAGGCGTGTTCCGAA	0.438																																						uc003cos.2		NA																	0				ovary(1)	1						c.(1147-1149)GGC>GGT		suppressor of actin 1		C		1,4405	2.1+/-5.4	0,1,2202	173.0	152.0	159.0		1149	-10.4	0.4	3	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous	SACM1L	NM_014016.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		383/588	45776775	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22908					Golgi apparatus		g.chr3:45776775C>T	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1149C>T	3.37:g.45776775C>T						SACM1L_uc011bag.1_Silent_p.G280G|SACM1L_uc011bah.1_Silent_p.G317G|SACM1L_uc003cot.2_Silent_p.G26G	p.G383G	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	14	1353	+			383			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	ENST00000389061.5	37	c.1149C>T	CCDS33745.1																																																																																				0.438	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		15	42	0	0	0	0	15	42				
DHX30	22907	broad.mit.edu	37	3	47887994	47887994	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:47887994G>A	ENST00000445061.1	+	11	1839	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	DHX30_ENST00000348968.4_Missense_Mutation_p.E450K|DHX30_ENST00000457607.1_Missense_Mutation_p.E506K|DHX30_ENST00000446256.2_Missense_Mutation_p.E439K	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	478	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTATGTGACCGAGGGCCGAGG	0.642																																						uc003cru.2		NA																	0				ovary(2)|skin(2)	4						c.(1432-1434)GAG>AAG		DEAH (Asp-Glu-Ala-His) box polypeptide 30							80.0	83.0	82.0					3																	47887994		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47887994G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1432G>A	3.37:g.47887994G>A	ENSP00000405620:p.Glu478Lys					DHX30_uc003crt.2_Missense_Mutation_p.E439K	p.E478K	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	11	1858	+			478			Helicase ATP-binding.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1432G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858190	0.32791	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.08	4.2	0.49525	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.198587	0.42821	D	0.000644	T	0.05181	0.0138	N	0.02985	-0.445	0.40549	D	0.981105	B;B	0.26120	0.142;0.009	B;B	0.22386	0.039;0.007	T	0.26710	-1.0095	10	0.07325	T	0.83	.	12.5915	0.56445	0.0802:0.0:0.9198:0.0	.	478;439	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	K	439;478;450;506	ENSP00000392601:E439K;ENSP00000405620:E478K;ENSP00000343442:E450K;ENSP00000394682:E506K	ENSP00000343442:E450K	E	+	1	0	DHX30	47862998	1.000000	0.71417	0.897000	0.35233	0.994000	0.84299	5.540000	0.67205	1.135000	0.42183	0.655000	0.94253	GAG		0.642	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		19	45	0	0	0	0	19	45				
TWF2	11344	broad.mit.edu	37	3	52263103	52263103	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:52263103G>A	ENST00000305533.5	-	9	1240	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron|TLR9_ENST00000360658.2_5'Flank|TLR9_ENST00000597542.1_Intron	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	333					barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTATGGCCCCGCTTGCCCCCT	0.672																																						uc003ddd.2		NA																	0				stomach(1)|ovary(1)|lung(1)	3						c.(997-999)CGG>TGG		twinfilin-like protein							83.0	81.0	82.0					3																	52263103		2203	4300	6503	SO:0001583	missense	11344					cytoskeleton|perinuclear region of cytoplasm	actin binding|ATP binding	g.chr3:52263103G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.997C>T	3.37:g.52263103G>A	ENSP00000303908:p.Arg333Trp					TLR9_uc003dda.1_5'Flank|TLR9_uc003ddb.2_Intron|TLR9_uc003ddc.1_Intron|TWF2_uc010hmc.2_3'UTR	p.R333W	NM_007284	NP_009215	Q6IBS0	TWF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1148	-			333					Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	c.997C>T	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897502	0.72639	.	.	ENSG00000247596	ENST00000305533	T	0.36157	1.27	4.89	3.93	0.45458	.	.	.	.	.	T	0.63248	0.2495	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71151	-0.4676	9	0.87932	D	0	.	14.5506	0.68065	0.0:0.0:0.7898:0.2102	.	333	Q6IBS0	TWF2_HUMAN	W	333	ENSP00000303908:R333W	ENSP00000303908:R333W	R	-	1	2	TWF2	52238143	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.903000	0.39858	2.244000	0.73946	0.561000	0.74099	CGG		0.672	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			9	43	0	0	0	0	9	43				
TKT	7086	broad.mit.edu	37	3	53260829	53260829	+	Missense_Mutation	SNP	C	C	T	rs148472107		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:53260829C>T	ENST00000462138.1	-	13	1727	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	TKT_ENST00000423525.2_Missense_Mutation_p.D547N|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.D555N|TKT_ENST00000296289.6_Missense_Mutation_p.D500N			P29401	TKT_HUMAN	transketolase	547					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CGAGCGCTGTCGAGAATGAGT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		21574	0.0		0.001	False		,,,				2504	0.0				Colon(133;1506 2347 35238 42177)	uc003dgo.2		NA																	0				ovary(2)	2						c.(1639-1641)GAC>AAC		transketolase isoform 1	Thiamine(DB00152)	C	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	163.0	146.0	152.0		1639,1639	4.3	0.1	3	dbSNP_134	152	0,8600		0,0,4300	no	missense,missense	TKT	NM_001064.3,NM_001135055.2	23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	547/624,547/624	53260829	1,13005	2203	4300	6503	SO:0001583	missense	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53260829C>T		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1639G>A	3.37:g.53260829C>T	ENSP00000417773:p.Asp547Asn					TKT_uc003dgp.2_Missense_Mutation_p.D179N|TKT_uc011beo.1_Missense_Mutation_p.D500N|TKT_uc003dgq.2_Missense_Mutation_p.D547N|TKT_uc011beq.1_Missense_Mutation_p.D555N|TKT_uc011ber.1_Missense_Mutation_p.D349N|TKT_uc011bep.1_Missense_Mutation_p.D464N	p.D547N	NM_001135055	NP_001128527	P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	13	1749	-		Prostate(884;0.0959)	547					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	c.1639G>A	CCDS2871.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.96	2.986505	0.53934	2.27E-4	0.0	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.14	4.27	0.50696	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.396277	0.31884	N	0.006917	D	0.83059	0.5172	N	0.25789	0.76	0.50813	D	0.99989	B;B;B	0.34255	0.372;0.445;0.445	B;B;B	0.29440	0.102;0.039;0.017	T	0.80457	-0.1374	10	0.33141	T	0.24	-4.3727	13.7695	0.63015	0.0:0.9254:0.0:0.0746	.	555;464;547	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	N	547;547;555;500;381	ENSP00000417773:D547N;ENSP00000405455:D547N;ENSP00000391481:D555N;ENSP00000296289:D500N	ENSP00000296289:D500N	D	-	1	0	TKT	53235869	0.996000	0.38824	0.085000	0.20634	0.933000	0.57130	3.365000	0.52335	1.177000	0.42855	0.655000	0.94253	GAC		0.602	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			7	48	0	0	0	0	7	48				
ROBO2	6092	broad.mit.edu	37	3	77089985	77089985	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:77089985G>T	ENST00000461745.1	+	1	949	c.49G>T	c.(49-51)Gtt>Ttt	p.V17F	ROBO2_ENST00000332191.8_Missense_Mutation_p.V17F|ROBO2_ENST00000487694.3_Intron	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	17					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATTTTTATATGTTCGGGTTGA	0.383																																						uc003dpy.3		NA																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(49-51)GTT>TTT		roundabout, axon guidance receptor, homolog 2							200.0	192.0	194.0					3																	77089985		1821	4084	5905	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77089985G>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.49G>T	3.37:g.77089985G>T	ENSP00000417164:p.Val17Phe					ROBO2_uc003dpz.2_Missense_Mutation_p.V17F|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V17F	p.V17F	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	1	692	+			17					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.49G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	9.419	1.082521	0.20309	.	.	ENSG00000185008	ENST00000461745;ENST00000332191	T;T	0.62364	0.04;0.03	5.49	-1.69	0.08186	.	.	.	.	.	T	0.28863	0.0716	N	0.08118	0	0.23515	N	0.997512	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32851	-0.9891	8	0.05959	T	0.93	.	2.5376	0.04718	0.1616:0.1:0.2138:0.5246	.	17;17	F8W703;Q9HCK4	.;ROBO2_HUMAN	F	17	ENSP00000417164:V17F;ENSP00000327536:V17F	ENSP00000327536:V17F	V	+	1	0	ROBO2	77172675	0.934000	0.31675	0.320000	0.25306	0.962000	0.63368	0.313000	0.19415	0.012000	0.14892	0.561000	0.74099	GTT		0.383	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		37	32	1	0	1.16e-17	1.89e-17	37	32				
ZBED2	79413	broad.mit.edu	37	3	111312889	111312889	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:111312889A>T	ENST00000317012.4	-	2	1168	c.160T>A	c.(160-162)Ttc>Atc	p.F54I	CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	54							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						GCCTCAGAGAACCGGGTGCCC	0.572																																						uc003dxy.2		NA																	0				skin(1)	1						c.(160-162)TTC>ATC		zinc finger, BED domain containing 2							173.0	163.0	166.0					3																	111312889		2203	4300	6503	SO:0001583	missense	79413						DNA binding|metal ion binding	g.chr3:111312889A>T	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"""Zinc fingers, BED-type"""	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.160T>A	3.37:g.111312889A>T	ENSP00000321370:p.Phe54Ile					CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	p.F54I	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN			2	1045	-			54			BED-type.		D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	c.160T>A	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	A	16.04	3.008831	0.54361	.	.	ENSG00000177494	ENST00000317012	.	.	.	3.1	0.395	0.16304	Zinc finger, BED-type predicted (2);	0.390338	0.18564	N	0.137523	T	0.23289	0.0563	N	0.24115	0.695	0.22591	N	0.99896	B	0.12013	0.005	B	0.04013	0.001	T	0.14868	-1.0457	9	0.72032	D	0.01	1.0082	3.5958	0.08005	0.5415:0.2331:0.0:0.2253	.	54	Q9BTP6	ZBED2_HUMAN	I	54	.	ENSP00000321370:F54I	F	-	1	0	ZBED2	112795579	0.080000	0.21391	0.975000	0.42487	0.634000	0.38068	1.091000	0.30915	-0.021000	0.14009	0.460000	0.39030	TTC		0.572	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		25	44	0	0	0	0	25	44				
ZBTB20	26137	broad.mit.edu	37	3	114069375	114069375	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:114069375G>A	ENST00000474710.1	-	4	1728	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V	ZBTB20_ENST00000357258.3_Missense_Mutation_p.A444V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A444V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A444V|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A444V|ZBTB20_ENST00000462705.1_Missense_Mutation_p.A444V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A444V	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	517				A -> V (in Ref. 1; AAG28340). {ECO:0000305}.		nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCCACTGCCCGCGGGCTGGGT	0.622																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2		NA																	0				ovary(4)|skin(1)	5						c.(1549-1551)GCG>GTG		zinc finger and BTB domain containing 20 isoform							50.0	49.0	49.0					3																	114069375		2203	4299	6502	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069375G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1550C>T	3.37:g.114069375G>A	ENSP00000419153:p.Ala517Val					ZBTB20_uc003ebj.2_Missense_Mutation_p.A444V|ZBTB20_uc010hqp.2_Missense_Mutation_p.A444V|ZBTB20_uc003ebk.2_Missense_Mutation_p.A444V|ZBTB20_uc003ebl.2_Missense_Mutation_p.A444V|ZBTB20_uc003ebm.2_Missense_Mutation_p.A444V|ZBTB20_uc003ebn.2_Missense_Mutation_p.A444V|uc003ebo.1_5'Flank	p.A517V	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	1730	-			517	A -> V (in Ref. 1; AAG28340).				Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1550C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901285	0.72754	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10005	2.94;2.94;2.94;2.94;2.92;2.94;2.94	5.68	5.68	0.88126	.	0.293745	0.30940	N	0.008566	T	0.18130	0.0435	N	0.19112	0.55	0.58432	D	0.999998	D	0.67145	0.996	D	0.65874	0.939	T	0.12811	-1.0533	10	0.10902	T	0.67	.	19.7986	0.96495	0.0:0.0:1.0:0.0	.	517	Q9HC78	ZBT20_HUMAN	V	444;444;444;444;517;444;444	ENSP00000420324:A444V;ENSP00000377375:A444V;ENSP00000418092:A444V;ENSP00000419902:A444V;ENSP00000419153:A517V;ENSP00000349803:A444V;ENSP00000417307:A444V	ENSP00000349803:A444V	A	-	2	0	ZBTB20	115552065	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.210000	0.77924	2.682000	0.91365	0.557000	0.71058	GCG		0.622	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		12	68	0	0	0	0	12	68				
CHCHD6	84303	broad.mit.edu	37	3	126633572	126633572	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:126633572C>G	ENST00000290913.3	+	6	638	c.545C>G	c.(544-546)tCa>tGa	p.S182*	CHCHD6_ENST00000508789.1_Nonsense_Mutation_p.S183*|CHCHD6_ENST00000515867.1_3'UTR	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	182					cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						GAGGCAGCCTCAAAGATGGAG	0.388																																						uc003ejf.1		NA																	0					0						c.(544-546)TCA>TGA		coiled-coil-helix-coiled-coil-helix domain							100.0	108.0	106.0					3																	126633572		2203	4300	6503	SO:0001587	stop_gained	84303							g.chr3:126633572C>G	BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28184	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 23"", ""coiled-coil-helix cristae morphology 1"""	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.545C>G	3.37:g.126633572C>G	ENSP00000290913:p.Ser182*					CHCHD6_uc010hsj.1_Nonsense_Mutation_p.S183*	p.S182*	NM_032343	NP_115719	Q9BRQ6	CHCH6_HUMAN			6	583	+			182					D6R9U0|D6RIB4|H8Y0Y7	Nonsense_Mutation	SNP	ENST00000290913.3	37	c.545C>G	CCDS3041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.25|12.25	1.883113|1.883113	0.33255|0.33255	.|.	.|.	ENSG00000159685|ENSG00000159685	ENST00000513253|ENST00000290913;ENST00000508789	.|.	.|.	.|.	4.43|4.43	2.62|2.62	0.31277|0.31277	.|.	.|0.330485	.|0.26446	.|N	.|0.024330	T|.	0.61652|.	0.2364|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.58983|.	-0.7539|.	4|.	.|0.51188	.|T	.|0.08	-0.0079|-0.0079	8.4|8.4	0.32581|0.32581	0.0:0.8136:0.0:0.1864|0.0:0.8136:0.0:0.1864	.|.	.|.	.|.	.|.	E|X	116|182;183	.|.	.|ENSP00000290913:S182X	Q|S	+|+	1|2	0|0	CHCHD6|CHCHD6	128116262|128116262	0.323000|0.323000	0.24643|0.24643	0.938000|0.938000	0.37757|0.37757	0.220000|0.220000	0.24768|0.24768	2.305000|2.305000	0.43664|0.43664	0.436000|0.436000	0.26393|0.26393	0.563000|0.563000	0.77884|0.77884	CAA|TCA		0.388	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356432.1	NM_032343		33	12	0	0	0	0	33	12				
MCM2	4171	broad.mit.edu	37	3	127338055	127338055	+	Silent	SNP	G	G	A	rs144817363		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:127338055G>A	ENST00000265056.7	+	13	2443	c.2199G>A	c.(2197-2199)ccG>ccA	p.P733P	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	733					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|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)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GGGTCCACCCGAAGCTCAACC	0.597																																						uc003ejp.2		NA																	0				ovary(3)|skin(1)	4						c.(2197-2199)CCG>CCA		minichromosome maintenance complex component 2		G		1,4405	2.1+/-5.4	0,1,2202	117.0	91.0	100.0		2199	-11.2	0.0	3	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MCM2	NM_004526.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		733/905	127338055	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4171				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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127338055G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2199G>A	3.37:g.127338055G>A						MCM2_uc011bkm.1_Silent_p.P603P|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.P686P	p.P733P	NM_004526	NP_004517	P49736	MCM2_HUMAN			13	2256	+			733					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.2199G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	3.687	-0.064293	0.07273	2.27E-4	1.16E-4	ENSG00000073111	ENST00000491422	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.47655	0.1457	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69191	-0.5210	4	.	.	.	-20.8115	10.0296	0.42092	0.1424:0.4437:0.3544:0.0595	.	.	.	.	Q	665	.	.	R	+	2	0	MCM2	128820745	0.029000	0.19370	0.019000	0.16419	0.524000	0.34500	-0.727000	0.04931	-4.704000	0.00035	-1.130000	0.01982	CGA		0.597	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			14	48	0	0	0	0	14	48				
BFSP2	8419	broad.mit.edu	37	3	133191346	133191346	+	Missense_Mutation	SNP	G	G	T	rs141155612		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:133191346G>T	ENST00000302334.2	+	6	1270	c.1181G>T	c.(1180-1182)cGc>cTc	p.R394L	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	394	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTGCTGGCCCGCAAGTGCCAG	0.662																																						uc003epn.1		NA																	0					0						c.(1180-1182)CGC>CTC		phakinin							23.0	26.0	25.0					3																	133191346		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133191346G>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.1181G>T	3.37:g.133191346G>T	ENSP00000304987:p.Arg394Leu						p.R394L	NM_003571	NP_003562	Q13515	BFSP2_HUMAN			6	1319	+			394			Rod.|Potential.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.1181G>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	g	8.009	0.757053	0.15846	.	.	ENSG00000170819	ENST00000302334	D	0.87729	-2.29	5.13	1.85	0.25348	Filament (1);	0.766918	0.11671	N	0.540831	T	0.70185	0.3195	N	0.04090	-0.28	0.19300	N	0.999977	B	0.02656	0.0	B	0.04013	0.001	T	0.60757	-0.7200	10	0.72032	D	0.01	-2.396	4.7829	0.13211	0.2163:0.0:0.4756:0.3081	.	394	Q13515	BFSP2_HUMAN	L	394	ENSP00000304987:R394L	ENSP00000304987:R394L	R	+	2	0	BFSP2	134674036	0.949000	0.32298	0.004000	0.12327	0.973000	0.67179	0.767000	0.26575	0.387000	0.25024	0.556000	0.70494	CGC		0.662	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			23	9	1	0	5.35e-11	8.2e-11	23	9				
GPR171	29909	broad.mit.edu	37	3	150916254	150916254	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:150916254T>C	ENST00000309180.5	-	3	1150	c.920A>G	c.(919-921)aAg>aGg	p.K307R	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	307					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCTGAGCCTTGGTCTCTTT	0.398																																						uc003eyq.3		NA																	0					0						c.(919-921)AAG>AGG		G protein-coupled receptor 171							71.0	72.0	72.0					3																	150916254		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916254T>C	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.920A>G	3.37:g.150916254T>C	ENSP00000308479:p.Lys307Arg					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.K307R	NM_013308	NP_037440	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1160	-			307			Cytoplasmic (Potential).		D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.920A>G	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.940284	0.34283	.	.	ENSG00000174946	ENST00000309180	T	0.33438	1.41	5.61	-1.56	0.08532	.	0.983219	0.08280	N	0.970011	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34104	-0.9842	10	0.06494	T	0.89	-4.4974	6.4853	0.22085	0.0:0.2894:0.335:0.3757	.	307	O14626	GP171_HUMAN	R	307	ENSP00000308479:K307R	ENSP00000308479:K307R	K	-	2	0	GPR171	152398944	0.000000	0.05858	0.000000	0.03702	0.420000	0.31355	-0.468000	0.06656	-0.156000	0.11079	0.528000	0.53228	AAG		0.398	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		4	119	0	0	0	0	4	119				
MME	4311	broad.mit.edu	37	3	154886357	154886357	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:154886357C>A	ENST00000460393.1	+	19	1977	c.1857C>A	c.(1855-1857)tcC>tcA	p.S619S	MME_ENST00000493237.1_Silent_p.S619S|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Silent_p.S619S|MME_ENST00000360490.2_Silent_p.S619S|MME_ENST00000492661.1_Silent_p.S619S	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	619					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AGGAGCAATCCCAGTGCATGG	0.393																																						uc010hvr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1855-1857)TCC>TCA		membrane metallo-endopeptidase	Candoxatril(DB00616)						124.0	118.0	120.0					3																	154886357		2203	4300	6503	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154886357C>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1857C>A	3.37:g.154886357C>A						MME_uc003fab.1_Silent_p.S619S|MME_uc003fac.1_Silent_p.S619S|MME_uc003fad.1_Silent_p.S619S|MME_uc003fae.1_Silent_p.S619S	p.S619S	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		19	2068	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	619			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.1857C>A	CCDS3172.1																																																																																				0.393	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		36	74	1	0	2.86e-05	3.96e-05	36	74				
KPNA4	3840	broad.mit.edu	37	3	160219947	160219947	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:160219947C>G	ENST00000334256.4	-	17	1816	c.1511G>C	c.(1510-1512)gGa>gCa	p.G504A		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	504					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACCAAATGTTCCGCCTTGAAT	0.348																																						uc003fdn.2		NA																	0					0						c.(1510-1512)GGA>GCA		karyopherin alpha 4							119.0	117.0	118.0					3																	160219947		2203	4298	6501	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160219947C>G	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1511G>C	3.37:g.160219947C>G	ENSP00000334373:p.Gly504Ala						p.G504A	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		17	1817	-			504					A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.1511G>C	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748875	0.49257	.	.	ENSG00000186432	ENST00000334256	T	0.08634	3.07	5.3	4.43	0.53597	.	0.220240	0.47455	D	0.000227	T	0.07638	0.0192	L	0.28344	0.845	0.80722	D	1	B	0.17038	0.02	B	0.16722	0.016	T	0.20472	-1.0274	10	0.38643	T	0.18	-5.3227	14.3031	0.66368	0.0:0.9279:0.0:0.0721	.	504	O00629	IMA4_HUMAN	A	504	ENSP00000334373:G504A	ENSP00000334373:G504A	G	-	2	0	KPNA4	161702641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	1.383000	0.46405	0.558000	0.71614	GGA		0.348	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		15	205	0	0	0	0	15	205				
SLITRK3	22865	broad.mit.edu	37	3	164906545	164906545	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:164906545G>T	ENST00000475390.1	-	2	2517	c.2074C>A	c.(2074-2076)Cgg>Agg	p.R692R	SLITRK3_ENST00000241274.3_Silent_p.R692R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	692					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTCCTGCCGCTTGCTTCTG	0.572										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(2074-2076)CGG>AGG		slit and trk like 3 protein precursor							91.0	73.0	79.0					3																	164906545		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906545G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2074C>A	3.37:g.164906545G>T		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.R692R	p.R692R	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2518	-			692			Cytoplasmic (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2074C>A	CCDS3197.1																																																																																				0.572	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		27	47	1	0	6.13e-19	1.02e-18	27	47				
TNIK	23043	broad.mit.edu	37	3	170819397	170819397	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:170819397A>G	ENST00000436636.2	-	22	2776	c.2432T>C	c.(2431-2433)cTa>cCa	p.L811P	TNIK_ENST00000488470.1_Missense_Mutation_p.L756P|TNIK_ENST00000284483.8_Missense_Mutation_p.L803P|TNIK_ENST00000538048.1_Missense_Mutation_p.L763P|TNIK_ENST00000341852.6_Missense_Mutation_p.L727P|TNIK_ENST00000357327.5_Missense_Mutation_p.L782P|TNIK_ENST00000475336.1_Missense_Mutation_p.L719P|TNIK_ENST00000369326.5_Missense_Mutation_p.L789P|TNIK_ENST00000470834.1_Missense_Mutation_p.L774P|TNIK_ENST00000460047.1_Missense_Mutation_p.L748P	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	811	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAGTTCTCTTAGTTCTTTGGC	0.448																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(2431-2433)CTA>CCA		TRAF2 and NCK interacting kinase isoform 1							206.0	184.0	191.0					3																	170819397		1951	4162	6113	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170819397A>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2432T>C	3.37:g.170819397A>G	ENSP00000399511:p.Leu811Pro					TNIK_uc003fhi.2_Missense_Mutation_p.L756P|TNIK_uc003fhj.2_Missense_Mutation_p.L782P|TNIK_uc003fhk.2_Missense_Mutation_p.L803P|TNIK_uc003fhl.2_Missense_Mutation_p.L727P|TNIK_uc003fhm.2_Missense_Mutation_p.L748P|TNIK_uc003fhn.2_Missense_Mutation_p.L774P|TNIK_uc003fho.2_Missense_Mutation_p.L719P|TNIK_uc003fhg.2_5'UTR	p.L811P	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		22	2777	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		811			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2432T>C	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880998	0.72294	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;1.0;0.997;0.997;1.0;1.0;0.997;1.0	D;D;D;D;D;D;D;D	0.85130	0.994;0.991;0.994;0.994;0.996;0.997;0.994;0.996	T	0.03306	-1.1050	10	0.54805	T	0.06	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	719;774;748;727;803;782;756;811	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	P	811;789;763;727;803;719;782;748;756;774	ENSP00000399511:L811P;ENSP00000358332:L789P;ENSP00000443278:L763P;ENSP00000345352:L727P;ENSP00000284483:L803P;ENSP00000418156:L719P;ENSP00000349880:L782P;ENSP00000418916:L748P;ENSP00000418378:L756P;ENSP00000419990:L774P	ENSP00000284483:L803P	L	-	2	0	TNIK	172302091	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.722000	0.91452	2.304000	0.77564	0.528000	0.53228	CTA		0.448	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		51	181	0	0	0	0	51	181				
ATP13A5	344905	broad.mit.edu	37	3	192994612	192994612	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:192994612G>T	ENST00000342358.4	-	29	3440	c.3323C>A	c.(3322-3324)cCa>cAa	p.P1108Q	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1108						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGTTATGGTTGGGATCAACTG	0.308																																						uc011bsq.1		NA																	0				ovary(5)|skin(4)|large_intestine(2)	11						c.(3322-3324)CCA>CAA		ATPase type 13A5							54.0	53.0	54.0					3																	192994612		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:192994612G>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3323C>A	3.37:g.192994612G>T	ENSP00000341942:p.Pro1108Gln						p.P1108Q	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	29	3323	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		1108					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.3323C>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248577	0.59103	.	.	ENSG00000187527	ENST00000342358	D	0.89810	-2.57	5.71	4.84	0.62591	.	0.172853	0.39615	N	0.001309	D	0.89132	0.6628	L	0.60455	1.87	0.37228	D	0.905572	D	0.60575	0.988	P	0.53912	0.737	D	0.88158	0.2855	10	0.28530	T	0.3	-5.8746	8.4618	0.32931	0.0817:0.1535:0.7649:0.0	.	1108	Q4VNC0	AT135_HUMAN	Q	1108	ENSP00000341942:P1108Q	ENSP00000341942:P1108Q	P	-	2	0	ATP13A5	194477306	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.064000	0.49986	1.414000	0.47017	0.655000	0.94253	CCA		0.308	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		16	44	1	0	7.08e-05	9.67e-05	16	44				
MUC4	4585	broad.mit.edu	37	3	195489041	195489041	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr3:195489041A>T	ENST00000346145.4	-	13	1760	c.1721T>A	c.(1720-1722)gTc>gAc	p.V574D	MUC4_ENST00000475231.1_Missense_Mutation_p.V4758D|MUC4_ENST00000463781.3_Missense_Mutation_p.V4810D|MUC4_ENST00000349607.4_Missense_Mutation_p.V523D	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1567					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATCACCGAGACGGTGGCCCA	0.697																																						uc011bto.1		NA																	0					0						c.(14044-14046)GTC>GAC		mucin 4 isoform a							33.0	29.0	30.0					3																	195489041		2199	4296	6495	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195489041A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1721T>A	3.37:g.195489041A>T	ENSP00000304207:p.Val574Asp					MUC4_uc003fuz.2_Missense_Mutation_p.V408D|MUC4_uc003fva.2_Missense_Mutation_p.V290D|MUC4_uc003fvb.2_Missense_Mutation_p.V326D|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.V326D|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.V290D|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.V374D|MUC4_uc011bti.1_Missense_Mutation_p.V374D|MUC4_uc011btj.1_Missense_Mutation_p.V551D|MUC4_uc011btk.1_Missense_Mutation_p.V290D|MUC4_uc011btl.1_Missense_Mutation_p.V319D|MUC4_uc011btm.1_Missense_Mutation_p.V499D|MUC4_uc011btn.1_Missense_Mutation_p.V290D|MUC4_uc003fvo.2_Missense_Mutation_p.V574D|MUC4_uc003fvp.2_Missense_Mutation_p.V523D	p.V4682D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	15	14505	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1567			VWFD.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.14045T>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	16.57	3.159025	0.57368	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.93	4.93	0.64822	.	0.233245	0.30011	N	0.010632	T	0.78181	0.4243	M	0.80616	2.505	0.43608	D	0.995978	D;D;D;D;D;D	0.65815	0.995;0.982;0.982;0.986;0.986;0.995	D;P;P;P;P;P	0.68943	0.961;0.894;0.894;0.876;0.876;0.901	T	0.81402	-0.0949	10	0.87932	D	0	-25.5725	12.3963	0.55386	1.0:0.0:0.0:0.0	.	4682;523;574;4810;4758;1515	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	D	523;574;4810;4758	ENSP00000338109:V523D;ENSP00000304207:V574D;ENSP00000417498:V4810D;ENSP00000420243:V4758D	ENSP00000304207:V574D	V	-	2	0	MUC4	196974712	0.923000	0.31300	0.217000	0.23759	0.007000	0.05969	1.837000	0.39201	1.858000	0.53909	0.454000	0.30748	GTC		0.697	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		9	16	0	0	0	0	9	16				
FAM193A	8603	broad.mit.edu	37	4	2661595	2661595	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:2661595C>T	ENST00000324666.5	+	8	1037	c.686C>T	c.(685-687)cCc>cTc	p.P229L	FAM193A_ENST00000382839.3_Missense_Mutation_p.P229L|FAM193A_ENST00000545951.1_Missense_Mutation_p.P229L|FAM193A_ENST00000502458.1_Missense_Mutation_p.P253L|FAM193A_ENST00000505311.1_Missense_Mutation_p.P229L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	229										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATCATGGACCCCCCCGTCACT	0.522																																						uc010icl.2		NA																	0				ovary(3)	3						c.(685-687)CCC>CTC		hypothetical protein LOC8603							195.0	167.0	177.0					4																	2661595		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2661595C>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.686C>T	4.37:g.2661595C>T	ENSP00000324587:p.Pro229Leu					FAM193A_uc010ick.2_Missense_Mutation_p.P429L|FAM193A_uc003gfd.2_Missense_Mutation_p.P229L|FAM193A_uc011bvm.1_Missense_Mutation_p.P253L|FAM193A_uc011bvn.1_Missense_Mutation_p.P229L|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.P83L	p.P229L	NM_003704	NP_003695	P78312	F193A_HUMAN			8	1037	+			229					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.686C>T	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833112	0.71258	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.34472	1.41;1.83;1.4;1.41;1.36	5.73	5.73	0.89815	.	0.247942	0.42548	D	0.000681	T	0.29158	0.0725	N	0.22421	0.69	0.44539	D	0.997495	B;B;B;B;B	0.31548	0.328;0.328;0.328;0.161;0.161	B;B;B;B;B	0.27380	0.079;0.079;0.079;0.079;0.079	T	0.09487	-1.0672	10	0.72032	D	0.01	-9.7662	18.8756	0.92334	0.0:1.0:0.0:0.0	.	229;253;229;253;229	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	L	229;229;229;253;83	ENSP00000372290:P229L;ENSP00000324587:P229L;ENSP00000443617:P229L;ENSP00000427505:P253L;ENSP00000427260:P83L	ENSP00000324587:P229L	P	+	2	0	FAM193A	2631393	1.000000	0.71417	0.986000	0.45419	0.825000	0.46686	7.253000	0.78320	2.696000	0.92011	0.561000	0.74099	CCC		0.522	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		31	35	0	0	0	0	31	35				
KLHL5	51088	broad.mit.edu	37	4	39122661	39122661	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:39122661C>G	ENST00000504108.1	+	11	2526	c.2243C>G	c.(2242-2244)gCt>gGt	p.A748G	KLHL5_ENST00000261426.5_Missense_Mutation_p.A687G|KLHL5_ENST00000261425.3_Missense_Mutation_p.A702G|KLHL5_ENST00000508137.2_Missense_Mutation_p.A561G|RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000359687.2_Intron	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	748						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGAGCTGGAGCTTGTGTTGTG	0.363																																						uc003gts.2		NA																	0				ovary(1)	1						c.(2242-2244)GCT>GGT		kelch-like 5 isoform 1							139.0	128.0	132.0					4																	39122661		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39122661C>G	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.2243C>G	4.37:g.39122661C>G	ENSP00000423897:p.Ala748Gly					KLHL5_uc003gtp.2_Missense_Mutation_p.A702G|KLHL5_uc003gtq.2_Missense_Mutation_p.A561G|KLHL5_uc003gtt.2_Missense_Mutation_p.A687G	p.A748G	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN			11	2318	+			748			Kelch 6.		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.2243C>G	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124196	0.56613	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000261426;ENST00000546147	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.54	5.54	0.83059	Kelch-type beta propeller (1);	.	.	.	.	T	0.80979	0.4728	M	0.78223	2.4	0.80722	D	1	D;D	0.61080	0.982;0.989	D;P	0.63793	0.918;0.887	T	0.76520	-0.2929	9	0.23302	T	0.38	.	19.8568	0.96762	0.0:1.0:0.0:0.0	.	687;748	F8WAE7;Q96PQ7	.;KLHL5_HUMAN	G	782;702;561;748;687;342	ENSP00000261425:A702G;ENSP00000423080:A561G;ENSP00000423897:A748G;ENSP00000261426:A687G	ENSP00000261425:A702G	A	+	2	0	KLHL5	38799056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.407000	0.73280	2.764000	0.94973	0.650000	0.86243	GCT		0.363	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			8	33	0	0	0	0	8	33				
DCAF4L1	285429	broad.mit.edu	37	4	41984019	41984019	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:41984019G>T	ENST00000333141.5	+	1	307	c.210G>T	c.(208-210)gcG>gcT	p.A70A		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	70										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CCTCTTTGGCGAGCGACCGAT	0.537																																						uc003gwk.2		NA																	0				skin(1)	1						c.(208-210)GCG>GCT		WD repeat domain 21B							97.0	82.0	87.0					4																	41984019		2203	4300	6503	SO:0001819	synonymous_variant	285429							g.chr4:41984019G>T	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.210G>T	4.37:g.41984019G>T							p.A70A	NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN			1	307	+			70					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	c.210G>T	CCDS33978.1																																																																																				0.537	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		21	12	1	0	4.35e-09	6.43e-09	21	12				
NPFFR2	10886	broad.mit.edu	37	4	73012771	73012771	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:73012771G>C	ENST00000308744.6	+	4	909	c.811G>C	c.(811-813)Gtc>Ctc	p.V271L	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.V169L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.V172L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	271					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GATCATCTGGGTCCTAGCCAT	0.388																																						uc003hgg.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(811-813)GTC>CTC		neuropeptide FF receptor 2 isoform 1							239.0	239.0	239.0					4																	73012771		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012771G>C	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.811G>C	4.37:g.73012771G>C	ENSP00000307822:p.Val271Leu					NPFFR2_uc010iig.1_Missense_Mutation_p.V53L|NPFFR2_uc003hgi.2_Missense_Mutation_p.V172L|NPFFR2_uc003hgh.2_Missense_Mutation_p.V169L|NPFFR2_uc003hgj.2_RNA	p.V271L	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	909	+			271			Helical; Name=4; (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.811G>C	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407962	0.25378	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.35236	1.32;1.32;1.32	5.66	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.566023	0.15915	N	0.238437	T	0.28001	0.0690	L	0.27944	0.81	0.52099	D	0.99994	B;B	0.31893	0.128;0.345	B;B	0.39805	0.042;0.31	T	0.03555	-1.1025	10	0.19590	T	0.45	.	8.0188	0.30398	0.1407:0.0:0.7283:0.1311	.	172;271	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	L	271;172;169	ENSP00000307822:V271L;ENSP00000379321:V172L;ENSP00000351599:V169L	ENSP00000307822:V271L	V	+	1	0	NPFFR2	73231635	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	2.824000	0.48088	0.703000	0.31848	0.650000	0.86243	GTC		0.388	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		58	160	0	0	0	0	58	160				
WDFY3	23001	broad.mit.edu	37	4	85661382	85661382	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:85661382A>T	ENST00000295888.4	-	39	6829	c.6422T>A	c.(6421-6423)aTt>aAt	p.I2141N	WDFY3_ENST00000322366.6_Missense_Mutation_p.I2141N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2141					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGACAGCTAATGAATTCTTG	0.423																																						uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(6421-6423)ATT>AAT		WD repeat and FYVE domain containing 3 isoform							136.0	137.0	136.0					4																	85661382		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85661382A>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6422T>A	4.37:g.85661382A>T	ENSP00000295888:p.Ile2141Asn						p.I2141N	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	39	6830	-		Hepatocellular(203;0.114)	2141					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.6422T>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694555	0.88830	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.69435	-0.4;-0.39	5.16	5.16	0.70880	.	0.055638	0.64402	D	0.000001	T	0.71204	0.3312	L	0.49778	1.585	0.80722	D	1	D	0.55385	0.971	P	0.53689	0.732	T	0.71513	-0.4570	10	0.40728	T	0.16	.	15.2795	0.73770	1.0:0.0:0.0:0.0	.	2141	Q8IZQ1	WDFY3_HUMAN	N	2141	ENSP00000318466:I2141N;ENSP00000295888:I2141N	ENSP00000295888:I2141N	I	-	2	0	WDFY3	85880406	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	9.287000	0.95975	2.067000	0.61834	0.383000	0.25322	ATT		0.423	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		31	67	0	0	0	0	31	67				
PTPN13	5783	broad.mit.edu	37	4	87610317	87610317	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:87610317A>G	ENST00000411767.2	+	5	583	c.520A>G	c.(520-522)Aaa>Gaa	p.K174E	PTPN13_ENST00000502971.1_Missense_Mutation_p.K174E|PTPN13_ENST00000427191.2_Missense_Mutation_p.K174E|PTPN13_ENST00000436978.1_Missense_Mutation_p.K174E|PTPN13_ENST00000316707.6_Missense_Mutation_p.K174E|PTPN13_ENST00000511467.1_Missense_Mutation_p.K174E			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	174	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACACTTGGTAAAACTGGTTCT	0.373																																						uc003hpz.2		NA																	0				ovary(4)|breast(1)|kidney(1)	6						c.(520-522)AAA>GAA		protein tyrosine phosphatase, non-receptor type							151.0	148.0	149.0					4																	87610317		1866	4101	5967	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87610317A>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.520A>G	4.37:g.87610317A>G	ENSP00000407249:p.Lys174Glu					PTPN13_uc003hpy.2_Missense_Mutation_p.K174E|PTPN13_uc003hqa.2_Missense_Mutation_p.K174E|PTPN13_uc003hqb.2_Missense_Mutation_p.K174E	p.K174E	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	5	1000	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	174			KIND.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.520A>G	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718826	0.89205	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000502971;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.72	5.72	0.89469	KIND (2);	0.122244	0.36482	N	0.002576	T	0.35219	0.0924	L	0.31207	0.915	0.37087	D	0.899255	B;P;P;P	0.52061	0.146;0.95;0.917;0.95	B;P;P;P	0.53035	0.184;0.716;0.524;0.716	T	0.20472	-1.0274	10	0.26408	T	0.33	.	15.999	0.80275	1.0:0.0:0.0:0.0	.	174;174;174;174	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	E	174;174;174;174;174;174;142	ENSP00000408368:K174E;ENSP00000394794:K174E;ENSP00000423531:K174E;ENSP00000322675:K174E;ENSP00000407249:K174E;ENSP00000426626:K174E	ENSP00000322675:K174E	K	+	1	0	PTPN13	87829341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.793000	0.62474	2.176000	0.68965	0.528000	0.53228	AAA		0.373	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			52	117	0	0	0	0	52	117				
ADH6	130	broad.mit.edu	37	4	100131356	100131356	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:100131356G>T	ENST00000237653.7	-	5	834	c.450C>A	c.(448-450)taC>taA	p.Y150*	RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Nonsense_Mutation_p.Y150*|ADH6_ENST00000394899.2_Nonsense_Mutation_p.Y150*	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	150					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TTATCACTGTGTATTCACAGA	0.433																																						uc003hup.3		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(448-450)TAC>TAA		class V alcohol dehydrogenase isoform 2	Abacavir(DB01048)|NADH(DB00157)						119.0	115.0	117.0					4																	100131356		2203	4300	6503	SO:0001587	stop_gained	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100131356G>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.450C>A	4.37:g.100131356G>T	ENSP00000237653:p.Tyr150*					uc003hum.1_Intron|ADH6_uc003huo.2_Nonsense_Mutation_p.Y150*|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Nonsense_Mutation_p.Y150*	p.Y150*	NM_000672	NP_000663	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	5	544	-			150					B3KS45|Q58F53	Nonsense_Mutation	SNP	ENST00000237653.7	37	c.450C>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	40	8.014120	0.98610	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653	.	.	.	4.36	1.59	0.23543	.	0.057363	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7502	9.9894	0.41860	0.239:0.0:0.761:0.0	.	.	.	.	X	150	.	ENSP00000237653:Y150X	Y	-	3	2	ADH6	100350379	1.000000	0.71417	0.979000	0.43373	0.958000	0.62258	1.251000	0.32862	0.397000	0.25310	0.460000	0.39030	TAC		0.433	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		37	61	1	0	8.74e-17	1.42e-16	37	61				
NDST4	64579	broad.mit.edu	37	4	115767118	115767118	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:115767118G>T	ENST00000264363.2	-	10	2654	c.1976C>A	c.(1975-1977)aCa>aAa	p.T659K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	659	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAAGTCACTTGTAGTATTGGA	0.388																																						uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(1975-1977)ACA>AAA		heparan sulfate N-deacetylase/N-sulfotransferase							80.0	77.0	78.0					4																	115767118		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767118G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1976C>A	4.37:g.115767118G>T	ENSP00000264363:p.Thr659Lys					NDST4_uc010imw.2_RNA	p.T659K	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	10	2655	-		Ovarian(17;0.156)	659			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1976C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219272	0.58560	.	.	ENSG00000138653	ENST00000264363	T	0.54675	0.56	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.045448	0.85682	D	0.000000	T	0.51941	0.1704	L	0.38175	1.15	0.58432	D	0.999993	B	0.33777	0.425	B	0.39971	0.315	T	0.46470	-0.9189	10	0.36615	T	0.2	.	19.6454	0.95775	0.0:0.0:1.0:0.0	.	659	Q9H3R1	NDST4_HUMAN	K	659	ENSP00000264363:T659K	ENSP00000264363:T659K	T	-	2	0	NDST4	115986567	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.646000	0.67916	2.629000	0.89072	0.655000	0.94253	ACA		0.388	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		24	42	1	0	1.18e-14	1.88e-14	24	42				
PCDH10	57575	broad.mit.edu	37	4	134072572	134072572	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:134072572G>A	ENST00000264360.5	+	1	2103	c.1277G>A	c.(1276-1278)gGg>gAg	p.G426E	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGAGAGGCGGGGGACTCCTAC	0.587																																						uc003iha.2		NA																	0				ovary(2)	2						c.(1276-1278)GGG>GAG		protocadherin 10 isoform 1 precursor							140.0	155.0	150.0					4																	134072572		2200	4299	6499	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072572G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1277G>A	4.37:g.134072572G>A	ENSP00000264360:p.Gly426Glu					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G426E	p.G426E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2103	+			426			Cadherin 4.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1277G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	2.704	-0.270389	0.05716	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.01629	4.72	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.46145	D	0.000318	T	0.00815	0.0027	N	0.01679	-0.765	0.35714	D	0.816622	P;B	0.39920	0.695;0.001	B;B	0.34652	0.187;0.002	T	0.71059	-0.4702	10	0.18276	T	0.48	.	12.5049	0.55975	0.0:0.0:0.8332:0.1668	.	426;426	Q9P2E7;Q96SF0	PCD10_HUMAN;.	E	426	ENSP00000264360:G426E	ENSP00000264360:G426E	G	+	2	0	PCDH10	134292022	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.561000	0.45905	2.423000	0.82170	0.561000	0.74099	GGG		0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		95	47	0	0	0	0	95	47				
POU4F2	5458	broad.mit.edu	37	4	147561489	147561489	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:147561489C>A	ENST00000281321.3	+	2	1007	c.759C>A	c.(757-759)gcC>gcA	p.A253A	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	253	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGTGGACGCCGACCCGCGGG	0.682																																						uc003ikv.2		NA																	0				breast(1)	1						c.(757-759)GCC>GCA		Brn3b POU domain transcription factor							18.0	20.0	19.0					4																	147561489		2200	4297	6497	SO:0001819	synonymous_variant	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561489C>A	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.759C>A	4.37:g.147561489C>A							p.A253A	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	1007	+	all_hematologic(180;0.151)		253			POU-specific.		B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	c.759C>A	CCDS34074.1																																																																																				0.682	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		13	3	1	0	4.37e-10	6.59e-10	13	3				
FBXW7	55294	broad.mit.edu	37	4	153247228	153247228	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:153247228A>T	ENST00000281708.4	-	10	2803	c.1574T>A	c.(1573-1575)gTg>gAg	p.V525E	FBXW7_ENST00000296555.5_Missense_Mutation_p.V407E|FBXW7_ENST00000603548.1_Missense_Mutation_p.V525E|FBXW7_ENST00000393956.3_Missense_Mutation_p.V349E|FBXW7_ENST00000263981.5_Missense_Mutation_p.V445E|FBXW7_ENST00000603841.1_Missense_Mutation_p.V525E	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	525					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGGATCCCACACCTTTACCAT	0.428			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1573-1575)GTG>GAG		F-box and WD repeat domain containing 7 isoform							204.0	196.0	199.0					4																	153247228		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247228A>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1574T>A	4.37:g.153247228A>T	ENSP00000281708:p.Val525Glu					FBXW7_uc011cii.1_Missense_Mutation_p.V525E|FBXW7_uc003imt.2_Missense_Mutation_p.V525E|FBXW7_uc011cih.1_Missense_Mutation_p.V349E|FBXW7_uc003imq.2_Missense_Mutation_p.V445E|FBXW7_uc003imr.2_Missense_Mutation_p.V407E	p.V525E	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1723	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	525			WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1574T>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.051791	0.75960	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.72	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053673	0.64402	D	0.000001	D	0.84092	0.5396	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.986;0.996;0.987;0.987	D	0.86892	0.2049	10	0.87932	D	0	-16.6959	13.2579	0.60089	0.8674:0.1326:0.0:0.0	.	349;525;407;445	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	E	525;407;445;349	ENSP00000281708:V525E;ENSP00000296555:V407E;ENSP00000263981:V445E;ENSP00000377528:V349E	ENSP00000263981:V445E	V	-	2	0	FBXW7	153466678	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.287000	0.95975	1.077000	0.40990	-0.323000	0.08544	GTG		0.428	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			39	30	0	0	0	0	39	30				
RXFP1	59350	broad.mit.edu	37	4	159568073	159568073	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:159568073C>A	ENST00000307765.5	+	16	1727	c.1476C>A	c.(1474-1476)gcC>gcA	p.A492A	RXFP1_ENST00000470033.1_Silent_p.A459A|RXFP1_ENST00000460056.2_Silent_p.A411A|RXFP1_ENST00000343542.5_Silent_p.A444A|RXFP1_ENST00000448688.2_Silent_p.A387A	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	492					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GATCTTTGGCCATTCTGTCCA	0.408																																						uc003ipz.2		NA																	0					0						c.(1474-1476)GCC>GCA		relaxin/insulin-like family peptide receptor 1							138.0	129.0	132.0					4																	159568073		1922	4142	6064	SO:0001819	synonymous_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159568073C>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1476C>A	4.37:g.159568073C>A						RXFP1_uc011cja.1_Silent_p.A387A|RXFP1_uc010iqo.2_Silent_p.A444A|RXFP1_uc011cjb.1_Silent_p.A390A|RXFP1_uc010iqk.2_Silent_p.A360A|RXFP1_uc011cjc.1_Silent_p.A411A|RXFP1_uc011cjd.1_Silent_p.A411A|RXFP1_uc010iql.2_Silent_p.A336A|RXFP1_uc011cje.1_Silent_p.A519A|RXFP1_uc010iqm.2_Silent_p.A459A|RXFP1_uc011cjf.1_Silent_p.A361A|RXFP1_uc010iqn.2_Silent_p.A437A	p.A492A	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	16	1558	+	all_hematologic(180;0.24)	Renal(120;0.0854)	492			Helical; Name=3; (Potential).		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	c.1476C>A	CCDS43276.1																																																																																				0.408	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		29	21	1	0	1.08e-15	1.74e-15	29	21				
MARCH1	55016	broad.mit.edu	37	4	164534544	164534544	+	Splice_Site	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:164534544G>T	ENST00000503008.1	-	5	1140	c.164C>A	c.(163-165)gCa>gAa	p.A55E	MARCH1_ENST00000514618.1_Splice_Site_p.A55E|MARCH1_ENST00000339875.5_Missense_Mutation_p.A38E|MARCH1_ENST00000274056.7_Splice_Site_p.A55E	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	55	Responsible for low stability. {ECO:0000250}.				antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGGCTGCTTGCCTGGAGAAA	0.413																																						uc003iqs.1		NA																	0				lung(2)	2						c.(163-165)GCA>GAA		membrane-associated RING-CH protein I							128.0	118.0	121.0					4																	164534544		2203	4300	6503	SO:0001630	splice_region_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164534544G>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.163-1C>A	4.37:g.164534544G>T						MARCH1_uc003iqr.1_Missense_Mutation_p.A38E	p.A55E	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN			5	1141	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	55			Responsible for low stability (By similarity).		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.164C>A	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450184	0.84101	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	T;T;T;T;T	0.60797	1.83;1.83;0.16;1.32;1.9	6.06	6.06	0.98353	.	0.438446	0.22464	N	0.059711	T	0.69806	0.3152	L	0.42245	1.32	0.42714	D	0.993652	D;D	0.65815	0.993;0.995	D;P	0.70227	0.968;0.878	T	0.60296	-0.7291	10	0.19147	T	0.46	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	55;38	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	E	55;55;55;38;55	ENSP00000274056:A55E;ENSP00000427223:A55E;ENSP00000421322:A55E;ENSP00000345676:A38E;ENSP00000426731:A55E	ENSP00000274056:A55E	A	-	2	0	MARCH1	164753994	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	7.154000	0.77437	2.871000	0.98454	0.655000	0.94253	GCA		0.413	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	Missense_Mutation	18	19	1	0	3.52e-12	5.47e-12	18	19				
TRIML2	205860	broad.mit.edu	37	4	189012609	189012609	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:189012609C>A	ENST00000512729.1	-	7	1456	c.1082G>T	c.(1081-1083)tGt>tTt	p.C361F	TRIML2_ENST00000326754.3_Missense_Mutation_p.C386F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	361	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATTTGGGATACAGAGGGAAAA	0.463																																						uc003izl.2		NA																	0				central_nervous_system(2)	2						c.(1081-1083)TGT>TTT		tripartite motif family-like 2							154.0	154.0	154.0					4																	189012609		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012609C>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.1082G>T	4.37:g.189012609C>A	ENSP00000422581:p.Cys361Phe					TRIML2_uc003izj.1_Missense_Mutation_p.C189F|TRIML2_uc003izk.1_Missense_Mutation_p.C169F|TRIML2_uc011cle.1_Missense_Mutation_p.C436F	p.C361F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1118	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	361			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.1082G>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552359	0.65311	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.60920	0.15;0.15	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000034	T	0.75213	0.3819	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.979	T	0.76203	-0.3045	10	0.66056	D	0.02	.	16.9063	0.86128	0.0:1.0:0.0:0.0	.	386;361	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	F	361;386	ENSP00000422581:C361F;ENSP00000317498:C386F	ENSP00000317498:C386F	C	-	2	0	TRIML2	189249603	0.673000	0.27539	0.937000	0.37676	0.424000	0.31475	2.658000	0.46733	2.941000	0.99782	0.655000	0.94253	TGT		0.463	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		45	71	1	0	1.89e-27	3.25e-27	45	71				
SLC12A7	10723	broad.mit.edu	37	5	1094289	1094289	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:1094289T>C	ENST00000264930.5	-	2	242	c.199A>G	c.(199-201)Aag>Gag	p.K67E		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	67					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCCATGTTCTTCCCTTCAAAG	0.468																																						uc003jbu.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(199-201)AAG>GAG		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						127.0	119.0	122.0					5																	1094289		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1094289T>C	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.199A>G	5.37:g.1094289T>C	ENSP00000264930:p.Lys67Glu						p.K67E	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		2	265	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		67			Cytoplasmic (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.199A>G	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.334875	0.41297	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.84730	-1.89	3.59	3.59	0.41128	.	0.220980	0.37053	N	0.002278	D	0.82843	0.5125	M	0.77820	2.39	0.41089	D	0.985589	P	0.36712	0.566	B	0.35607	0.206	T	0.80165	-0.1496	10	0.23302	T	0.38	.	11.2774	0.49174	0.0:0.0:0.0:1.0	.	67	Q9Y666	S12A7_HUMAN	E	67	ENSP00000264930:K67E	ENSP00000264930:K67E	K	-	1	0	SLC12A7	1147289	1.000000	0.71417	0.590000	0.28732	0.012000	0.07955	6.831000	0.75324	1.399000	0.46721	0.402000	0.26972	AAG		0.468	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		6	98	0	0	0	0	6	98				
IRX2	153572	broad.mit.edu	37	5	2749623	2749623	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:2749623G>C	ENST00000382611.6	-	2	776	c.528C>G	c.(526-528)aaC>aaG	p.N176K	C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.N176K|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	176					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		AGGTCATCTTGTTCTCCTTCT	0.602																																						uc003jda.2		NA																	0				skin(1)	1						c.(526-528)AAC>AAG		iroquois homeobox 2							136.0	130.0	132.0					5																	2749623		2203	4300	6503	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749623G>C	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.528C>G	5.37:g.2749623G>C	ENSP00000372056:p.Asn176Lys					C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.N176K	p.N176K	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	770	-			176					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.528C>G	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288785	0.80914	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.83506	-1.73;-1.73;-1.73	4.85	3.97	0.46021	Homeodomain-related (1);Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.89371	0.6696	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.89772	0.3955	10	0.72032	D	0.01	-33.4593	9.9007	0.41346	0.1585:0.0:0.8415:0.0	.	176	Q9BZI1	IRX2_HUMAN	K	176;176;83	ENSP00000372056:N176K;ENSP00000307006:N176K;ENSP00000426151:N83K	ENSP00000307006:N176K	N	-	3	2	IRX2	2802623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.003000	0.49505	2.239000	0.73571	0.655000	0.94253	AAC		0.602	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			45	78	0	0	0	0	45	78				
ICE1	23379	broad.mit.edu	37	5	5457653	5457653	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:5457653G>T	ENST00000296564.7	+	12	1122	c.900G>T	c.(898-900)gaG>gaT	p.E300D		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		300					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						TTTTTAATGAGAATGGAAATC	0.358																																						uc003jdm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(898-900)GAG>GAT		hypothetical protein LOC23379							104.0	102.0	103.0					5																	5457653		1883	4103	5986	SO:0001583	missense	23379							g.chr5:5457653G>T																												ENST00000296564.7:c.900G>T	5.37:g.5457653G>T	ENSP00000296564:p.Glu300Asp						p.E300D	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			12	1122	+			300					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.900G>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483498	0.26598	.	.	ENSG00000164151	ENST00000296564	T	0.12569	2.67	4.85	1.98	0.26296	.	0.731266	0.12378	N	0.474129	T	0.14184	0.0343	L	0.32530	0.975	0.09310	N	1	P	0.49961	0.93	P	0.49528	0.614	T	0.14364	-1.0475	10	0.87932	D	0	-11.1658	5.414	0.16363	0.189:0.1639:0.6471:0.0	.	300	Q9Y2F5	K0947_HUMAN	D	300	ENSP00000296564:E300D	ENSP00000296564:E300D	E	+	3	2	KIAA0947	5510653	0.467000	0.25831	0.009000	0.14445	0.027000	0.11550	0.527000	0.22987	0.426000	0.26116	0.555000	0.69702	GAG		0.358	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			31	52	1	0	1.31e-18	2.17e-18	31	52				
ADCY2	108	broad.mit.edu	37	5	7826964	7826964	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:7826964C>A	ENST00000338316.4	+	25	3345	c.3256C>A	c.(3256-3258)Cag>Aag	p.Q1086K	ADCY2_ENST00000537121.1_Missense_Mutation_p.Q906K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1086					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTCCCTTTCCCAGAGCAACGT	0.468																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(3256-3258)CAG>AAG		adenylate cyclase 2							110.0	91.0	97.0					5																	7826964		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7826964C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3256C>A	5.37:g.7826964C>A	ENSP00000342952:p.Gln1086Lys					ADCY2_uc011cmo.1_Missense_Mutation_p.Q906K|ADCY2_uc010itm.1_Missense_Mutation_p.Q282K	p.Q1086K	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			25	3323	+			1086			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.3256C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199891	0.58126	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.80909	-0.97;-1.43	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	L	0.55834	1.745	0.58432	D	0.999998	D;P	0.63046	0.992;0.756	P;B	0.52627	0.704;0.283	T	0.80984	-0.1138	10	0.29301	T	0.29	.	19.9504	0.97197	0.0:1.0:0.0:0.0	.	906;1086	B7Z2C1;Q08462	.;ADCY2_HUMAN	K	1086;198;919;906	ENSP00000342952:Q1086K;ENSP00000444803:Q906K	ENSP00000342952:Q1086K	Q	+	1	0	ADCY2	7879964	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.584000	0.82572	2.720000	0.93068	0.591000	0.81541	CAG		0.468	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		44	72	1	0	4.01e-20	6.75e-20	44	72				
MARCH6	10299	broad.mit.edu	37	5	10405687	10405687	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:10405687C>T	ENST00000274140.5	+	16	1482	c.1350C>T	c.(1348-1350)gtC>gtT	p.V450V	MARCH6_ENST00000510792.1_Silent_p.V148V|MARCH6_ENST00000449913.2_Silent_p.V402V|MARCH6_ENST00000503788.1_Silent_p.V345V	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	450					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GACCTGGTGTCCTGTGGTTTC	0.323																																						uc003jet.1		NA																	0				ovary(1)|breast(1)	2						c.(1348-1350)GTC>GTT		membrane-associated ring finger (C3HC4) 6							96.0	95.0	95.0					5																	10405687		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10405687C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1350C>T	5.37:g.10405687C>T						MARCH6_uc011cmu.1_Silent_p.V402V|MARCH6_uc003jeu.1_Silent_p.V148V|MARCH6_uc011cmv.1_Silent_p.V345V	p.V450V	NM_005885	NP_005876	O60337	MARH6_HUMAN			16	1533	+			450			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.1350C>T	CCDS34135.1																																																																																				0.323	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		38	43	0	0	0	0	38	43				
MROH2B	133558	broad.mit.edu	37	5	41048473	41048473	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:41048473A>G	ENST00000399564.4	-	16	2087	c.1637T>C	c.(1636-1638)gTa>gCa	p.V546A	MROH2B_ENST00000506092.2_Missense_Mutation_p.V101A	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	546																	CCATAGGTCTACCAATTTTGG	0.473																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(1636-1638)GTA>GCA		HEAT repeat family member 7B2							145.0	137.0	139.0					5																	41048473		1889	4115	6004	SO:0001583	missense	133558						binding	g.chr5:41048473A>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1637T>C	5.37:g.41048473A>G	ENSP00000382476:p.Val546Ala					HEATR7B2_uc003jmi.3_Missense_Mutation_p.V101A	p.V546A	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			16	2127	-			546			HEAT 6.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1637T>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	A	3.481	-0.105956	0.06924	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.06687	3.27;3.27	4.87	1.02	0.19986	Armadillo-type fold (1);	0.664814	0.13936	N	0.352549	T	0.03011	0.0089	N	0.05230	-0.09	0.22710	N	0.998826	B	0.06786	0.001	B	0.11329	0.006	T	0.46331	-0.9199	10	0.02654	T	1	.	6.8359	0.23935	0.7195:0.0:0.2805:0.0	.	546	Q7Z745	HTRB2_HUMAN	A	101;250;546	ENSP00000441504:V101A;ENSP00000382476:V546A	ENSP00000296803:V250A	V	-	2	0	HEATR7B2	41084230	0.098000	0.21812	0.939000	0.37840	0.970000	0.65996	0.400000	0.20932	0.087000	0.17167	0.533000	0.62120	GTA		0.473	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		34	72	0	0	0	0	34	72				
ZNF131	7690	broad.mit.edu	37	5	43161390	43161390	+	Silent	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:43161390A>T	ENST00000399534.1	+	5	455	c.411A>T	c.(409-411)acA>acT	p.T137T	ZNF131_ENST00000509156.1_Silent_p.T137T|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Silent_p.T137T|ZNF131_ENST00000505606.2_Silent_p.T137T|ZNF131_ENST00000306938.4_Silent_p.T137T			P52739	ZN131_HUMAN	zinc finger protein 131	137					regulation of transcription, DNA-templated (GO:0006355)|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)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAAATACCACAGGAAAAAATG	0.363																																						uc011cpw.1		NA																	0					0						c.(409-411)ACA>ACT		zinc finger protein 131							82.0	76.0	78.0					5																	43161390		1819	4080	5899	SO:0001819	synonymous_variant	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43161390A>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.411A>T	5.37:g.43161390A>T						ZNF131_uc010ivl.1_Silent_p.T137T|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Silent_p.T137T|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	p.T137T	NM_003432	NP_003423	P52739	ZN131_HUMAN			5	447	+			137					B4DRL3|Q6PIF0	Silent	SNP	ENST00000399534.1	37	c.411A>T																																																																																					0.363	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		18	46	0	0	0	0	18	46				
HCN1	348980	broad.mit.edu	37	5	45262557	45262557	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:45262557G>C	ENST00000303230.4	-	8	2196	c.2139C>G	c.(2137-2139)gcC>gcG	p.A713A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	713					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAGTTCGAGCGGCCAGAGGGC	0.657																																						uc003jok.2		NA																	0				ovary(1)	1						c.(2137-2139)GCC>GCG		hyperpolarization activated cyclic							48.0	47.0	48.0					5																	45262557		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262557G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2139C>G	5.37:g.45262557G>C							p.A713A	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2164	-			713			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.2139C>G	CCDS3952.1																																																																																				0.657	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		7	17	0	0	0	0	7	17				
HCN1	348980	broad.mit.edu	37	5	45396705	45396705	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:45396705C>A	ENST00000303230.4	-	4	1176	c.1119G>T	c.(1117-1119)tgG>tgT	p.W373C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	373					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCATGGTAATCCAGAGGTCAG	0.532																																						uc003jok.2		NA																	0				ovary(1)	1						c.(1117-1119)TGG>TGT		hyperpolarization activated cyclic							99.0	84.0	89.0					5																	45396705		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396705C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1119G>T	5.37:g.45396705C>A	ENSP00000307342:p.Trp373Cys						p.W373C	NM_021072	NP_066550	O60741	HCN1_HUMAN			4	1144	-			373			Helical; Name=Segment S6; (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1119G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400031	0.83120	.	.	ENSG00000164588	ENST00000303230	D	0.98362	-4.89	5.42	5.42	0.78866	Ion transport (1);	0.131308	0.36374	N	0.002621	D	0.98441	0.9481	M	0.75447	2.3	0.80722	D	1	P	0.51791	0.948	P	0.53809	0.735	D	0.99445	1.0939	10	0.87932	D	0	.	19.4084	0.94658	0.0:1.0:0.0:0.0	.	373	O60741	HCN1_HUMAN	C	373	ENSP00000307342:W373C	ENSP00000307342:W373C	W	-	3	0	HCN1	45432462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.820000	0.97059	0.650000	0.86243	TGG		0.532	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		21	64	1	0	2.46e-09	3.65e-09	21	64				
HCN1	348980	broad.mit.edu	37	5	45695881	45695881	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:45695881C>A	ENST00000303230.4	-	1	372	c.315G>T	c.(313-315)ggG>ggT	p.G105G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	105	Involved in subunit assembly. {ECO:0000250}.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATTTGTTGACCCCGGGCTGCA	0.622																																						uc003jok.2		NA																	0				ovary(1)	1						c.(313-315)GGG>GGT		hyperpolarization activated cyclic							32.0	34.0	34.0					5																	45695881		2201	4296	6497	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695881C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.315G>T	5.37:g.45695881C>A							p.G105G	NM_021072	NP_066550	O60741	HCN1_HUMAN			1	340	-			105			Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.315G>T	CCDS3952.1																																																																																				0.622	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		15	36	1	0	0.000422831	0.000568567	15	36				
ZNF366	167465	broad.mit.edu	37	5	71756259	71756259	+	Silent	SNP	G	G	A	rs539424512		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:71756259G>A	ENST00000318442.5	-	2	1555	c.1065C>T	c.(1063-1065)caC>caT	p.H355H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	355					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTTGGCTTCGTGGGCCTTGA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		18396	0.0		0.0	False		,,,				2504	0.001					uc003kce.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1063-1065)CAC>CAT		zinc finger protein 366							59.0	54.0	56.0					5																	71756259		2203	4300	6503	SO:0001819	synonymous_variant	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756259G>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1065C>T	5.37:g.71756259G>A							p.H355H	NM_152625	NP_689838	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1251	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	355			C2H2-type 4.		Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.1065C>T	CCDS4015.1																																																																																				0.662	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			5	8	0	0	0	0	5	8				
LIX1	167410	broad.mit.edu	37	5	96443064	96443064	+	Splice_Site	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:96443064G>T	ENST00000274382.4	-	3	682	c.387C>A	c.(385-387)agC>agA	p.S129R	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	129										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GGGTACTCACGCTGGTGGAGG	0.463																																						uc003kmy.3		NA																	0				ovary(1)	1						c.(385-387)AGC>AGA		limb expression 1							100.0	96.0	98.0					5																	96443064		2203	4300	6503	SO:0001630	splice_region_variant	167410							g.chr5:96443064G>T		CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.387+1C>A	5.37:g.96443064G>T							p.S129R	NM_153234	NP_694966	Q8N485	LIX1_HUMAN		COAD - Colon adenocarcinoma(37;0.0733)	3	627	-		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)	129					A8K4R9|Q8N7I2	Missense_Mutation	SNP	ENST00000274382.4	37	c.387C>A	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	G	7.224	0.597926	0.13939	.	.	ENSG00000145721	ENST00000274382	T	0.43688	0.94	6.03	-8.43	0.00953	.	0.155241	0.64402	N	0.000001	T	0.40815	0.1132	L	0.47716	1.5	0.31633	N	0.64875	D	0.67145	0.996	P	0.62491	0.903	T	0.55023	-0.8205	9	.	.	.	-3.0285	8.0414	0.30523	0.5888:0.0803:0.2522:0.0786	.	129	Q8N485	LIX1_HUMAN	R	129	ENSP00000274382:S129R	.	S	-	3	2	LIX1	96468820	0.000000	0.05858	0.329000	0.25429	0.198000	0.23893	-2.496000	0.00970	-1.990000	0.00978	-0.123000	0.14984	AGC		0.463	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234	Missense_Mutation	24	25	1	0	5.45e-15	8.73e-15	24	25				
PCDHB7	56129	broad.mit.edu	37	5	140553886	140553886	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:140553886G>C	ENST00000231137.3	+	1	1644	c.1470G>C	c.(1468-1470)ctG>ctC	p.L490L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	490	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTACTCCCTGCTGCCGTCCC	0.662																																						uc003lit.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1468-1470)CTG>CTC		protocadherin beta 7 precursor							99.0	98.0	98.0					5																	140553886		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553886G>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1470G>C	5.37:g.140553886G>C							p.L490L	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1644	+			490			Extracellular (Potential).|Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1470G>C	CCDS4249.1																																																																																				0.662	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		41	37	0	0	0	0	41	37				
PCDHB16	57717	broad.mit.edu	37	5	140568207	140568207	+	IGR	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:140568207T>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCATAACCCTGCAGGTCTCC	0.582																																						uc003liw.1		NA																	0					0						c.(1315-1317)CTG>CAG		protocadherin beta 9 precursor							149.0	145.0	146.0					5																	140568207		2203	4300	6503	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568207T>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568207T>A							p.L439Q	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	1316	+			439			Extracellular (Potential).|Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1316T>A	CCDS4251.1																																																																																				0.582	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		64	33	0	0	0	0	64	33				
PCDHGB3	56102	broad.mit.edu	37	5	140751528	140751528	+	Nonsense_Mutation	SNP	G	G	T	rs532361069		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:140751528G>T	ENST00000576222.1	+	1	1698	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	523	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGACCACGAGCAGCTGCG	0.687																																						uc003ljw.1		NA																	0					0						c.(1567-1569)GAG>TAG		protocadherin gamma subfamily B, 3 isoform 1							40.0	45.0	44.0					5																	140751528		2128	4234	6362	SO:0001587	stop_gained	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751528G>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1567G>T	5.37:g.140751528G>T	ENSP00000461862:p.Glu523*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Nonsense_Mutation_p.E523*|PCDHGA6_uc011dau.1_5'Flank	p.E523*	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1567	+			523			Extracellular (Potential).|Cadherin 5.		A7E229|Q9Y5C7	Nonsense_Mutation	SNP	ENST00000576222.1	37	c.1567G>T	CCDS58980.1																																																																																				0.687	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		13	19	1	0	1.58e-08	2.32e-08	13	19				
DOCK2	1794	broad.mit.edu	37	5	169509800	169509800	+	Splice_Site	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:169509800C>T	ENST00000256935.8	+	52	5511	c.5431C>T	c.(5431-5433)Ctg>Ttg	p.L1811L	DOCK2_ENST00000540750.1_Splice_Site_p.L872L|DOCK2_ENST00000520908.1_Splice_Site_p.L1303L|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1811					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTCAAAAGCTGGCCAGCAA	0.512																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(5431-5433)CTG>TTG		dedicator of cytokinesis 2							92.0	86.0	88.0					5																	169509800		2203	4300	6503	SO:0001630	splice_region_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169509800C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5431-1C>T	5.37:g.169509800C>T						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.L1303L|DOCK2_uc003mah.2_Silent_p.L367L	p.L1811L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		52	5511	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1811					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.5431C>T	CCDS4371.1																																																																																				0.512	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	Silent	19	16	0	0	0	0	19	16				
GABRP	2568	broad.mit.edu	37	5	170238960	170238960	+	Splice_Site	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:170238960G>A	ENST00000518525.1	+	11	1485	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R	GABRP_ENST00000265294.4_Splice_Site_p.G341R|GABRP_ENST00000519385.1_Splice_Site_p.G278E			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	341					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TATGAACTAGGGGACAACAAA	0.358																																						uc003mau.2		NA																	0				breast(1)	1						c.(1021-1023)GGG>AGG		gamma-aminobutyric acid (GABA) A receptor, pi							98.0	92.0	94.0					5																	170238960		2203	4300	6503	SO:0001630	splice_region_variant	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170238960G>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.1021-1G>A	5.37:g.170238960G>A						GABRP_uc011dev.1_Missense_Mutation_p.G278E	p.G341R	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1219	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	341			Cytoplasmic (Potential).		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.1021G>A	CCDS4375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.955138|3.955138	0.73902|0.73902	.|.	.|.	ENSG00000094755|ENSG00000094755	ENST00000539175;ENST00000519385|ENST00000518525;ENST00000265294	D|D;D	0.85861|0.81996	-2.04|-1.56;-1.56	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Neurotransmitter-gated ion-channel transmembrane domain (2);	0.869780|0.869780	0.10308|0.10308	N|N	0.690317|0.690317	T|T	0.62171|0.62171	0.2406|0.2406	N|N	0.01352|0.01352	-0.895|-0.895	0.37420|0.37420	D|D	0.913591|0.913591	D|B	0.89917|0.31879	1.0|0.344	D|B	0.91635|0.28385	0.999|0.089	T|T	0.61997|0.61997	-0.6947|-0.6947	9|9	.|.	.|.	.|.	.|.	16.3112|16.3112	0.82872|0.82872	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	278|341	E7EWG0|O00591	.|GBRP_HUMAN	E|R	176;278|341	ENSP00000430727:G278E|ENSP00000430100:G341R;ENSP00000265294:G341R	.|.	G|G	+|+	2|1	0|0	GABRP|GABRP	170171538|170171538	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.891000|0.891000	0.51852|0.51852	5.880000|5.880000	0.69698|0.69698	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.358	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211	Missense_Mutation	27	19	0	0	0	0	27	19				
TBC1D9B	23061	broad.mit.edu	37	5	179296770	179296770	+	Splice_Site	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:179296770T>A	ENST00000356834.3	-	17	2827	c.2790A>T	c.(2788-2790)ccA>ccT	p.P930P	TBC1D9B_ENST00000444477.2_Splice_Site_p.P88P|TBC1D9B_ENST00000355235.3_Splice_Site_p.P930P|TBC1D9B_ENST00000519746.1_Splice_Site_p.P106P|TBC1D9B_ENST00000518085.1_5'Flank	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	930						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTCTCACCTGGGGGAAGGT	0.632																																						uc003mlh.2		NA																	0				breast(1)|skin(1)	2						c.(2788-2790)CCA>CCT		TBC1 domain family, member 9B (with GRAM domain)							110.0	94.0	100.0					5																	179296770		2203	4300	6503	SO:0001630	splice_region_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179296770T>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2791+1A>T	5.37:g.179296770T>A						TBC1D9B_uc003mli.2_Silent_p.P930P|TBC1D9B_uc003mlj.2_Silent_p.P930P|TBC1D9B_uc003mlf.2_5'Flank|TBC1D9B_uc003mlg.2_Silent_p.P106P|TBC1D9B_uc011dgv.1_Silent_p.P106P|TBC1D9B_uc011dgw.1_Silent_p.P106P|TBC1D9B_uc003mlk.1_Silent_p.P88P	p.P930P	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	2827	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	930					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.2790A>T	CCDS43408.1																																																																																				0.632	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043	Silent	6	7	0	0	0	0	6	7				
MGAT1	4245	broad.mit.edu	37	5	180218667	180218667	+	Silent	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:180218667C>A	ENST00000446023.2	-	3	2055	c.1305G>T	c.(1303-1305)ctG>ctT	p.L435L	MGAT1_ENST00000427865.2_Silent_p.L435L|MGAT1_ENST00000393340.3_Silent_p.L435L|MGAT1_ENST00000307826.4_Silent_p.L435L|MGAT1_ENST00000333055.3_Silent_p.L435L	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	435			L -> P (in dbSNP:rs634501). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1827260, ECO:0000269|Ref.4}.		carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCCCACGTCAGTGGGGGCG	0.622																																						uc003mmg.3		NA																	0				ovary(1)	1						c.(1303-1305)CTG>CTT		mannosyl (alpha-1,3-)-glycoprotein							38.0	41.0	40.0					5																	180218667		2203	4300	6503	SO:0001819	synonymous_variant	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180218667C>A	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1305G>T	5.37:g.180218667C>A						MGAT1_uc010jlf.2_Silent_p.L435L|MGAT1_uc010jlg.2_Silent_p.L435L|MGAT1_uc003mmh.3_Silent_p.L435L|MGAT1_uc010jlh.2_Silent_p.L435L|MGAT1_uc003mmi.3_Silent_p.L435L	p.L435L	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1800	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	435			Lumenal (Potential).		A8K404|B3KRU8|D3DWR1|Q6IBE3	Silent	SNP	ENST00000446023.2	37	c.1305G>T	CCDS4458.1																																																																																				0.622	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		19	20	1	0	5.35e-11	8.2e-11	19	20				
BTNL3	10917	broad.mit.edu	37	5	180429673	180429673	+	Splice_Site	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr5:180429673G>A	ENST00000342868.6	+	4	859	c.675G>A	c.(673-675)gaG>gaA	p.E225E		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	225						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GTTTTTCAGAGACGTTTTTCC	0.458																																						uc003mmr.2		NA																	0					0						c.(673-675)GAG>GAA		butyrophilin-like 3 precursor							132.0	106.0	115.0					5																	180429673		1867	3778	5645	SO:0001630	splice_region_variant	10917				lipid metabolic process	integral to membrane		g.chr5:180429673G>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.674-1G>A	5.37:g.180429673G>A						BTNL3_uc010jlp.2_5'UTR	p.E225E	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		4	803	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	225			Extracellular (Potential).		Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	c.675G>A	CCDS47358.1																																																																																				0.458	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975	Silent	28	17	0	0	0	0	28	17				
GCNT2	2651	broad.mit.edu	37	6	10529180	10529180	+	Silent	SNP	G	G	A	rs142352495	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:10529180G>A	ENST00000379597.3	+	1	592	c.36G>A	c.(34-36)gcG>gcA	p.A12A	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Silent_p.A12A|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	12					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTTTTAGCGCGTCTCTTATCT	0.388													G|||	8	0.00159744	0.0053	0.0	5008	,	,		19532	0.0		0.0	False		,,,				2504	0.001					uc010joo.2		NA																	0				ovary(2)	2						c.(34-36)GCG>GCA		glucosaminyl (N-acetyl) transferase 2,		G		1,4405	4.2+/-10.8	0,1,2202	143.0	129.0	134.0		36	-1.2	0.0	6	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous	GCNT2	NM_145649.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		12/403	10529180	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529180G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.36G>A	6.37:g.10529180G>A						GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Silent_p.A11A|GCNT2_uc010jon.2_Silent_p.A11A	p.A12A	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	3	587	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	12			Helical; Signal-anchor for type II membrane protein; (Potential).			Silent	SNP	ENST00000379597.3	37	c.36G>A	CCDS34338.1																																																																																				0.388	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		19	81	0	0	0	0	19	81				
KIAA0319	9856	broad.mit.edu	37	6	24581232	24581232	+	Missense_Mutation	SNP	C	C	T	rs201901067		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:24581232C>T	ENST00000378214.3	-	7	1725	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R	KIAA0319_ENST00000537886.1_Missense_Mutation_p.G401R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G401R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G356R|KIAA0319_ENST00000535378.1_Missense_Mutation_p.G392R	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	401	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G401R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACATAAAGTCCGACGGACAAC	0.423											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011djo.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(1)|skin(1)	2						c.(1201-1203)GGA>AGA		KIAA0319 precursor							104.0	100.0	101.0					6																	24581232		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24581232C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1201G>A	6.37:g.24581232C>T	ENSP00000367459:p.Gly401Arg		OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772	KIAA0319_uc011djp.1_Missense_Mutation_p.G356R|KIAA0319_uc003neh.1_Missense_Mutation_p.G401R|KIAA0319_uc011djq.1_Missense_Mutation_p.G392R|KIAA0319_uc011djr.1_Missense_Mutation_p.G401R|KIAA0319_uc010jpt.1_5'UTR	p.G401R	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			7	1438	-			401			PKD 1.|Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.1201G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843185	0.71488	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.27557	1.69;1.66;1.66;1.66;1.66	4.26	4.26	0.50523	PKD/Chitinase domain (1);Fibronectin, type III (1);	0.000000	0.49916	D	0.000127	T	0.61578	0.2358	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.75554	-0.3277	10	0.87932	D	0	-13.021	16.8683	0.86034	0.0:1.0:0.0:0.0	.	401;392;401	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	R	401;392;356;401;401	ENSP00000439700:G401R;ENSP00000442403:G392R;ENSP00000401086:G356R;ENSP00000367459:G401R;ENSP00000437656:G401R	ENSP00000367459:G401R	G	-	1	0	KIAA0319	24689211	1.000000	0.71417	0.732000	0.30844	0.529000	0.34654	6.451000	0.73481	2.183000	0.69458	0.655000	0.94253	GGA		0.423	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		21	105	0	0	0	0	21	105				
ABCF1	23	broad.mit.edu	37	6	30557701	30557701	+	Missense_Mutation	SNP	G	G	T	rs534029778		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:30557701G>T	ENST00000326195.8	+	22	2295	c.2183G>T	c.(2182-2184)cGc>cTc	p.R728L	ABCF1_ENST00000396515.4_Missense_Mutation_p.R121L|ABCF1_ENST00000376545.3_Missense_Mutation_p.R690L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	728	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGCCTGGGCCGCTTCGGCCTG	0.612																																						uc003nql.2		NA																	0				ovary(2)	2						c.(2182-2184)CGC>CTC		ATP-binding cassette, sub-family F, member 1							141.0	159.0	153.0					6																	30557701		1511	2709	4220	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30557701G>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2183G>T	6.37:g.30557701G>T	ENSP00000313603:p.Arg728Leu					ABCF1_uc003nqm.2_Missense_Mutation_p.R690L|ABCF1_uc010jsb.2_Missense_Mutation_p.R121L	p.R728L	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			22	2278	+			728			ABC transporter 2.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.2183G>T	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	g	33	5.280293	0.95489	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000396515	D;D;D	0.83992	-1.79;-1.79;-1.79	5.94	5.94	0.96194	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.048928	0.85682	D	0.000000	D	0.86108	0.5854	L	0.41824	1.3	0.80722	D	1	D;D;D	0.61697	0.979;0.99;0.977	P;D;D	0.69307	0.862;0.963;0.924	D	0.86696	0.1926	10	0.72032	D	0.01	-15.8742	19.1419	0.93449	0.0:0.0:1.0:0.0	.	121;690;728	Q5STZ7;Q2L6I2;Q8NE71	.;.;ABCF1_HUMAN	L	728;690;121	ENSP00000313603:R728L;ENSP00000365728:R690L;ENSP00000379772:R121L	ENSP00000313603:R728L	R	+	2	0	ABCF1	30665680	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.890000	0.92477	2.821000	0.97095	0.651000	0.88453	CGC		0.612	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			54	124	1	0	3.3e-22	5.61e-22	54	124				
MDC1	9656	broad.mit.edu	37	6	30672319	30672319	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:30672319G>C	ENST00000376406.3	-	10	5288	c.4641C>G	c.(4639-4641)gtC>gtG	p.V1547V	MDC1_ENST00000376405.2_Silent_p.V1283V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1547	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GCTCAGGGGTGACAGGTTGGT	0.567								Other conserved DNA damage response genes																														uc003nrg.3		NA																	0				breast(2)|ovary(1)|kidney(1)	4						c.(4639-4641)GTC>GTG	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							118.0	137.0	130.0					6																	30672319		2203	4300	6503	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672319G>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4641C>G	6.37:g.30672319G>C						MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.V1154V	p.V1547V	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	5081	-			1547			Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.4641C>G	CCDS34384.1																																																																																				0.567	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		48	209	0	0	0	0	48	209				
MDC1	9656	broad.mit.edu	37	6	30673202	30673202	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:30673202G>T	ENST00000376406.3	-	10	4405	c.3758C>A	c.(3757-3759)tCc>tAc	p.S1253Y	MDC1_ENST00000376405.2_Missense_Mutation_p.S989Y|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1253	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGTGGAGGTGGAAGGCTGGAG	0.532								Other conserved DNA damage response genes																														uc003nrg.3		NA																	0				breast(2)|ovary(1)|kidney(1)	4						c.(3757-3759)TCC>TAC	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							128.0	148.0	141.0					6																	30673202		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673202G>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3758C>A	6.37:g.30673202G>T	ENSP00000365588:p.Ser1253Tyr					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S860Y	p.S1253Y	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	4198	-			1253	Missing (in Ref. 2; CAH18685).		Pro-rich.|Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3758C>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826445	0.32329	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000422104	T;T	0.14022	2.54;2.54	2.65	-0.35	0.12606	.	0.738763	0.10947	N	0.616586	T	0.10766	0.0263	M	0.73962	2.25	0.09310	N	1	D;P	0.59767	0.986;0.561	P;B	0.53912	0.737;0.143	T	0.08186	-1.0734	10	0.59425	D	0.04	.	3.3476	0.07141	0.2747:0.2185:0.5068:0.0	.	989;1253	Q14676-2;Q14676	.;MDC1_HUMAN	Y	1253;989;860	ENSP00000365588:S1253Y;ENSP00000365587:S989Y	ENSP00000365587:S989Y	S	-	2	0	MDC1	30781181	0.011000	0.17503	0.000000	0.03702	0.096000	0.18686	2.188000	0.42612	-0.086000	0.12550	-0.478000	0.04885	TCC		0.532	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		64	262	1	0	7.65e-43	1.35e-42	64	262				
PRRC2A	7916	broad.mit.edu	37	6	31597550	31597550	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:31597550C>T	ENST00000376033.2	+	14	2416	c.2182C>T	c.(2182-2184)Cct>Tct	p.P728S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P728S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	728	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GATGATTCCTCCTTATGTGGA	0.637																																						uc003nvb.3		NA																	0					0						c.(2182-2184)CCT>TCT		HLA-B associated transcript-2							37.0	39.0	38.0					6																	31597550		2129	4121	6250	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31597550C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2182C>T	6.37:g.31597550C>T	ENSP00000365201:p.Pro728Ser					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P728S	p.P728S	NM_080686	NP_542417	P48634	PRC2A_HUMAN			14	2431	+			728			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2182C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.698931	0.48307	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.04454	3.62;3.62	5.58	5.58	0.84498	.	0.000000	0.56097	D	0.000027	T	0.02342	0.0072	N	0.12182	0.205	0.53005	D	0.999964	P	0.48503	0.911	P	0.46940	0.532	T	0.53034	-0.8495	10	0.87932	D	0	-9.3828	11.849	0.52401	0.0:0.92:0.0:0.08	.	728	P48634	PRC2A_HUMAN	S	728;717;728;728	ENSP00000365175:P728S;ENSP00000365201:P728S	ENSP00000365175:P728S	P	+	1	0	PRRC2A	31705529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.551000	0.60740	2.906000	0.99361	0.655000	0.94253	CCT		0.637	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		12	50	0	0	0	0	12	50				
DAAM2	23500	broad.mit.edu	37	6	39869182	39869182	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:39869182G>T	ENST00000398904.2	+	24	3098	c.2916G>T	c.(2914-2916)cgG>cgT	p.R972R	RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Silent_p.R972R|DAAM2_ENST00000538976.1_Silent_p.R971R			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	972	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R971R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGAGGCCCGGCAGGATCTAG	0.607																																						uc003oow.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(2914-2916)CGG>CGT		dishevelled associated activator of							66.0	70.0	69.0					6																	39869182		1994	4171	6165	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869182G>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2916G>T	6.37:g.39869182G>T						DAAM2_uc003oox.2_Silent_p.R971R	p.R972R	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			24	3072	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		972			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.2916G>T	CCDS56426.1																																																																																				0.607	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			36	58	1	0	1.27e-14	2.02e-14	36	58				
SLC29A1	2030	broad.mit.edu	37	6	44197181	44197181	+	Silent	SNP	G	G	A	rs8187630	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:44197181G>A	ENST00000393841.1	+	4	575	c.84G>A	c.(82-84)ccG>ccA	p.P28P	SLC29A1_ENST00000371713.1_Silent_p.P28P|SLC29A1_ENST00000427851.2_Silent_p.P28P|SLC29A1_ENST00000371740.5_Silent_p.P28P|SLC29A1_ENST00000371731.1_Silent_p.P28P|SLC29A1_ENST00000371724.1_Silent_p.P28P|SLC29A1_ENST00000371708.1_Silent_p.P28P|SLC29A1_ENST00000371755.3_Silent_p.P28P|SLC29A1_ENST00000313248.7_Silent_p.P107P|SLC29A1_ENST00000393844.1_Silent_p.P28P	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	28					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CGCTGCTCCCGTGGAATTTTT	0.562													G|||	20	0.00399361	0.0151	0.0	5008	,	,		17425	0.0		0.0	False		,,,				2504	0.0					uc003owu.1		NA																	0				large_intestine(2)|skin(1)	3						c.(82-84)CCG>CCA		equilibrative nucleoside transporter 1	Troglitazone(DB00197)	G	,,,,	54,4352	53.6+/-89.4	2,50,2151	168.0	159.0	162.0		84,84,84,84,84	-3.4	1.0	6	dbSNP_126	162	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC29A1	NM_001078174.1,NM_001078175.1,NM_001078176.1,NM_001078177.1,NM_004955.2	,,,,	2,52,6449	AA,AG,GG		0.0233,1.2256,0.4306	,,,,	28/457,28/457,28/457,28/457,28/457	44197181	56,12950	2203	4300	6503	SO:0001819	synonymous_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44197181G>A	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.84G>A	6.37:g.44197181G>A						SLC29A1_uc011dvp.1_Silent_p.P47P|SLC29A1_uc003owv.1_Silent_p.P28P|SLC29A1_uc003oww.1_Silent_p.P107P|SLC29A1_uc011dvq.1_Silent_p.P70P|SLC29A1_uc003owx.1_Silent_p.P28P|SLC29A1_uc003owy.1_Silent_p.P28P|SLC29A1_uc003owz.1_Silent_p.P28P	p.P28P	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	413	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		28			Helical; (Potential).		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	c.84G>A	CCDS4908.1																																																																																				0.562	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			25	100	0	0	0	0	25	100				
OPN5	221391	broad.mit.edu	37	6	47775957	47775957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:47775957C>A	ENST00000371211.2	+	5	852	c.824C>A	c.(823-825)tCa>tAa	p.S275*	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Nonsense_Mutation_p.S275*|OPN5_ENST00000489301.2_Nonsense_Mutation_p.S275*	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	275					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCTGTGTGGTCAGCTTTTGGA	0.463																																					Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2		NA																	0				ovary(1)	1						c.(823-825)TCA>TAA		opsin 5 isoform 1							340.0	298.0	312.0					6																	47775957		2203	4300	6503	SO:0001587	stop_gained	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47775957C>A	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.824C>A	6.37:g.47775957C>A	ENSP00000360255:p.Ser275*					OPN5_uc003ozd.2_Nonsense_Mutation_p.S110*	p.S275*	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			5	829	+			275			Extracellular (Potential).		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Nonsense_Mutation	SNP	ENST00000371211.2	37	c.824C>A	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	37	6.452158	0.97577	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.8585	0.96775	0.0:1.0:0.0:0.0	.	.	.	.	X	275	.	ENSP00000360255:S275X	S	+	2	0	OPN5	47883916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.760000	0.94817	0.655000	0.94253	TCA		0.463	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		71	131	1	0	5.99e-33	1.04e-32	71	131				
PTCHD4	442213	broad.mit.edu	37	6	48036041	48036041	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:48036041G>A	ENST00000339488.4	-	1	384	c.351C>T	c.(349-351)ctC>ctT	p.L117L	PTCHD4_ENST00000543600.1_Silent_p.L100L	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	117						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CGGTTGGGGAGAGGAGGATCA	0.567																																						uc011dwm.1		NA																	0				central_nervous_system(1)	1						c.(298-300)CTC>CTT		hypothetical protein LOC442213							72.0	80.0	77.0					6																	48036041		1900	4114	6014	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:48036041G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.351C>T	6.37:g.48036041G>A						C6orf138_uc011dwn.1_Intron|C6orf138_uc003ozf.2_Silent_p.L117L	p.L100L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			1	385	-			117					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.300C>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	3.808	-0.040235	0.07497	.	.	ENSG00000244694	ENST00000398738	T	0.54866	0.55	5.13	5.13	0.70059	.	0.199753	0.40302	N	0.001137	T	0.40498	0.1119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23547	-1.0185	7	0.16896	T	0.51	.	15.0088	0.71533	0.0:0.1429:0.8571:0.0	.	.	.	.	F	117	ENSP00000381722:L117F	ENSP00000381722:L117F	L	-	1	0	C6orf138	48144000	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.486000	0.45259	2.373000	0.80994	0.563000	0.77884	CTC		0.567	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		35	95	0	0	0	0	35	95				
PKHD1	5314	broad.mit.edu	37	6	51695776	51695776	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:51695776C>T	ENST00000371117.3	-	52	8460	c.8185G>A	c.(8185-8187)Gcc>Acc	p.A2729T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A2729T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2729					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATTCAGGGGCAGAGGTAGAA	0.393																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(8185-8187)GCC>ACC		fibrocystin isoform 1							66.0	62.0	63.0					6																	51695776		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51695776C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8185G>A	6.37:g.51695776C>T	ENSP00000360158:p.Ala2729Thr					PKHD1_uc010jzn.1_Missense_Mutation_p.A712T|PKHD1_uc003pai.2_Missense_Mutation_p.A2729T	p.A2729T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			52	8461	-	Lung NSC(77;0.0605)		2729			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8185G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389124	0.25118	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86956	-1.99;-2.19	5.32	5.32	0.75619	.	1.121610	0.06613	N	0.756050	T	0.68165	0.2971	L	0.29908	0.895	0.18873	N	0.999985	B;P;B	0.35348	0.309;0.496;0.156	B;B;B	0.27380	0.039;0.079;0.026	T	0.59241	-0.7491	10	0.29301	T	0.29	.	12.264	0.54668	0.0:0.8288:0.1712:0.0	.	2729;2729;2729	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	T	2729	ENSP00000360158:A2729T;ENSP00000341097:A2729T	ENSP00000341097:A2729T	A	-	1	0	PKHD1	51803735	0.299000	0.24426	0.173000	0.22940	0.894000	0.52154	1.591000	0.36665	2.462000	0.83206	0.655000	0.94253	GCC		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		15	32	0	0	0	0	15	32				
GSTA5	221357	broad.mit.edu	37	6	52697722	52697722	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:52697722C>A	ENST00000370989.2	-	5	510	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.V161L			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	161	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AAAAGTTCCACCAGGTGAATG	0.502																																						uc003pba.1		NA																	0				ovary(1)	1						c.(481-483)GTG>TTG		glutathione S-transferase alpha 5	Glutathione(DB00143)						144.0	128.0	134.0					6																	52697722		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52697722C>A	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.481G>T	6.37:g.52697722C>A	ENSP00000360028:p.Val161Leu						p.V161L	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			6	551	-	Lung NSC(77;0.0912)		161			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.481G>T	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.751270	0.00663	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02050	4.48;4.48	2.66	-1.29	0.09288	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.329008	0.29040	N	0.013322	T	0.00328	0.0010	N	0.17631	0.505	0.23320	N	0.997912	B	0.02656	0.0	B	0.08055	0.003	T	0.44636	-0.9315	10	0.02654	T	1	.	2.3758	0.04342	0.1572:0.1831:0.4675:0.1922	.	161	Q7RTV2	GSTA5_HUMAN	L	161	ENSP00000360028:V161L;ENSP00000284562:V161L	ENSP00000284562:V161L	V	-	1	0	GSTA5	52805681	0.418000	0.25440	0.976000	0.42696	0.472000	0.32918	-0.008000	0.12788	-0.031000	0.13781	0.306000	0.20318	GTG		0.502	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		41	90	1	0	9.63e-15	1.54e-14	41	90				
LGSN	51557	broad.mit.edu	37	6	63990707	63990707	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:63990707G>T	ENST00000370657.4	-	4	782	c.749C>A	c.(748-750)aCt>aAt	p.T250N	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	250					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATTGGCTCCAGTGTGATACAA	0.388																																						uc003peh.2		NA																	0				skin(2)	2						c.(748-750)ACT>AAT		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						47.0	42.0	44.0					6																	63990707		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990707G>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.749C>A	6.37:g.63990707G>T	ENSP00000359691:p.Thr250Asn					LGSN_uc003pei.2_Intron	p.T250N	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	783	-			250					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.749C>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933904	0.18206	.	.	ENSG00000146166	ENST00000370657	D	0.86030	-2.06	5.17	2.34	0.29019	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.209839	0.56097	D	0.000023	T	0.75925	0.3916	L	0.51422	1.61	0.80722	D	1	P	0.41420	0.749	P	0.44811	0.461	T	0.77135	-0.2699	10	0.87932	D	0	-10.7416	9.9252	0.41487	0.2457:0.0:0.7543:0.0	.	250	Q5TDP6	LGSN_HUMAN	N	250	ENSP00000359691:T250N	ENSP00000359691:T250N	T	-	2	0	LGSN	64048666	0.990000	0.36364	0.955000	0.39395	0.027000	0.11550	2.226000	0.42963	0.673000	0.31224	0.650000	0.86243	ACT		0.388	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		19	28	1	0	2.39e-15	3.84e-15	19	28				
PHF3	23469	broad.mit.edu	37	6	64401851	64401851	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:64401851T>G	ENST00000262043.3	+	5	2754	c.2414T>G	c.(2413-2415)cTt>cGt	p.L805R	PHF3_ENST00000393387.1_Missense_Mutation_p.L805R			Q92576	PHF3_HUMAN	PHD finger protein 3	805					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGTGAAAAGCTTGGATTATCA	0.338																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(2413-2415)CTT>CGT		PHD finger protein 3							77.0	76.0	76.0					6																	64401851		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64401851T>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2414T>G	6.37:g.64401851T>G	ENSP00000262043:p.Leu805Arg					PHF3_uc010kaf.1_Missense_Mutation_p.L805R|PHF3_uc003pem.2_Missense_Mutation_p.L758R|PHF3_uc010kag.1_Missense_Mutation_p.L717R|PHF3_uc010kah.1_Missense_Mutation_p.L619R|PHF3_uc003pen.2_Missense_Mutation_p.L717R|PHF3_uc011dxs.1_Missense_Mutation_p.L74R	p.L805R	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	2440	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		805					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2414T>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159258	0.38119	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	T;T;T;T;T;T	0.48201	2.05;1.75;0.82;2.11;1.76;2.11	5.06	3.9	0.45041	.	0.225139	0.22766	N	0.055881	T	0.24470	0.0593	L	0.57536	1.79	0.33289	D	0.563214	P	0.41041	0.736	B	0.41988	0.372	T	0.07462	-1.0771	10	0.16420	T	0.52	-10.0353	6.5184	0.22260	0.0:0.2698:0.0:0.7302	.	805	Q92576	PHF3_HUMAN	R	619;717;74;805;758;805	ENSP00000424694:L619R;ENSP00000425227:L717R;ENSP00000425338:L74R;ENSP00000262043:L805R;ENSP00000424078:L758R;ENSP00000377048:L805R	ENSP00000262043:L805R	L	+	2	0	PHF3	64459810	0.998000	0.40836	0.994000	0.49952	0.967000	0.64934	1.428000	0.34892	2.036000	0.60181	0.477000	0.44152	CTT		0.338	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			12	20	0	0	0	0	12	20				
DPPA5	340168	broad.mit.edu	37	6	74063748	74063748	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:74063748G>A	ENST00000370370.3	-	2	189	c.120C>T	c.(118-120)gaC>gaT	p.D40D		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	40	KH; atypical.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						TTCGAGATCCGTCCGGGCCTG	0.612																																						uc003pgs.1		NA																	0					0						c.(118-120)GAC>GAT		developmental pluripotency associated 5							51.0	51.0	51.0					6																	74063748		2203	4300	6503	SO:0001819	synonymous_variant	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063748G>A		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.120C>T	6.37:g.74063748G>A							p.D40D	NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN			2	125	-			40			KH; atypical.		B2RPQ7	Silent	SNP	ENST00000370370.3	37	c.120C>T	CCDS34483.1																																																																																				0.612	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		11	40	0	0	0	0	11	40				
SNAP91	9892	broad.mit.edu	37	6	84302213	84302213	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:84302213C>G	ENST00000439399.2	-	21	2207	c.1891G>C	c.(1891-1893)Gca>Cca	p.A631P	SNAP91_ENST00000521743.1_Missense_Mutation_p.A631P|SNAP91_ENST00000521485.1_Missense_Mutation_p.A631P|SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.A631P|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000428679.2_Missense_Mutation_p.A631P|SNAP91_ENST00000195649.6_Missense_Mutation_p.A631P	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	631					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCCACCTTTGCTGGCGAGGCA	0.438																																						uc011dze.1		NA																	0				ovary(1)	1						c.(1891-1893)GCA>CCA		synaptosomal-associated protein, 91kDa homolog							41.0	43.0	42.0					6																	84302213		1975	4156	6131	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84302213C>G	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1891G>C	6.37:g.84302213C>G	ENSP00000400459:p.Ala631Pro					SNAP91_uc011dzd.1_Missense_Mutation_p.A134P|SNAP91_uc003pkb.2_Intron|SNAP91_uc003pkc.2_Intron|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.A629P	p.A631P	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	20	2208	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	631					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.1891G>C	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024459	0.54683	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000521743;ENST00000521931	T;T;T;T;T;T;T	0.29655	2.37;2.39;2.39;2.37;2.38;2.39;1.56	5.66	5.66	0.87406	.	0.262301	0.43416	D	0.000573	T	0.40791	0.1131	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.97	T	0.02326	-1.1176	10	0.25106	T	0.35	-11.6982	19.7531	0.96277	0.0:1.0:0.0:0.0	.	512;629	B7Z2N2;E1P549	.;.	P	631;631;631;631;631;631;444	ENSP00000429776:A631P;ENSP00000358708:A631P;ENSP00000400459:A631P;ENSP00000195649:A631P;ENSP00000412492:A631P;ENSP00000428215:A631P;ENSP00000430071:A444P	ENSP00000195649:A631P	A	-	1	0	SNAP91	84358932	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.652000	0.67959	2.684000	0.91462	0.650000	0.86243	GCA		0.438	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			6	14	0	0	0	0	6	14				
CGA	1081	broad.mit.edu	37	6	87796070	87796070	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:87796070G>C	ENST00000369582.2	-	3	271	c.171C>G	c.(169-171)ttC>ttG	p.F57L	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	57					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ATGCTCTAGAGAAGCAGCAGC	0.473																																						uc003plj.1		NA																	0				ovary(1)	1						c.(169-171)TTC>TTG		glycoprotein hormones, alpha polypeptide							157.0	158.0	158.0					6																	87796070		2203	4300	6503	SO:0001583	missense	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87796070G>C	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.171C>G	6.37:g.87796070G>C	ENSP00000358595:p.Phe57Leu						p.F57L	NM_000735	NP_000726	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	3	272	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	57						Missense_Mutation	SNP	ENST00000369582.2	37	c.171C>G	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384435	0.82792	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.05	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.72118	2.19	0.58432	D	0.999999	D	0.55385	0.971	P	0.54544	0.755	T	0.65442	-0.6167	9	0.72032	D	0.01	-0.3836	12.3748	0.55273	0.0871:0.0:0.9129:0.0	.	57	P01215	GLHA_HUMAN	L	57	.	ENSP00000358595:F57L	F	-	3	2	CGA	87852789	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.253000	0.51469	1.163000	0.42636	0.585000	0.79938	TTC		0.473	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		50	113	0	0	0	0	50	113				
GPRC6A	222545	broad.mit.edu	37	6	117150007	117150007	+	Missense_Mutation	SNP	C	C	A	rs375283736		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:117150007C>A	ENST00000310357.3	-	1	191	c.170G>T	c.(169-171)cGa>cTa	p.R57L	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R57L|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R57L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	57					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATTTGTGGTCGTCTGGGAGA	0.403																																						uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(169-171)CGA>CTA		G protein-coupled receptor, family C, group 6,							83.0	82.0	82.0					6																	117150007		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117150007C>A	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.170G>T	6.37:g.117150007C>A	ENSP00000309493:p.Arg57Leu					GPRC6A_uc003pxk.1_Missense_Mutation_p.R57L|GPRC6A_uc003pxl.1_Missense_Mutation_p.R57L	p.R57L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	1	192	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	57			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.170G>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480153	0.44044	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.85773	-2.03;-2.03;-2.03	5.05	2.3	0.28687	.	0.482839	0.18322	N	0.144787	T	0.46814	0.1412	N	0.08118	0	0.19945	N	0.999943	B;B;B	0.33940	0.34;0.433;0.395	B;B;B	0.29663	0.09;0.105;0.097	T	0.39981	-0.9587	10	0.38643	T	0.18	.	6.7975	0.23732	0.0:0.5752:0.0:0.4248	.	57;57;57	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	L	57	ENSP00000309493:R57L;ENSP00000357537:R57L;ENSP00000433465:R57L	ENSP00000309493:R57L	R	-	2	0	GPRC6A	117256700	0.080000	0.21391	0.891000	0.34965	0.979000	0.70002	0.360000	0.20250	0.311000	0.23014	0.563000	0.77884	CGA		0.403	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			11	55	1	0	1.62e-10	2.46e-10	11	55				
ROS1	6098	broad.mit.edu	37	6	117678071	117678071	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:117678071A>C	ENST00000368508.3	-	25	4060	c.3862T>G	c.(3862-3864)Tat>Gat	p.Y1288D	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.Y1283D	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1288					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTGTCCAATACAAGCGACTA	0.378			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(3862-3864)TAT>GAT		proto-oncogene c-ros-1 protein precursor							105.0	98.0	100.0					6																	117678071		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117678071A>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3862T>G	6.37:g.117678071A>C	ENSP00000357494:p.Tyr1288Asp					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.Y1288D	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	25	4061	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1288			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3862T>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675885	0.67928	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.94092	-3.35;-3.35	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000020	D	0.93074	0.7795	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94469	0.7683	10	0.87932	D	0	.	13.2821	0.60222	1.0:0.0:0.0:0.0	.	1288	P08922	ROS1_HUMAN	D	1288;1283	ENSP00000357494:Y1288D;ENSP00000357493:Y1283D	ENSP00000357493:Y1283D	Y	-	1	0	ROS1	117784764	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.428000	0.66489	2.222000	0.72286	0.533000	0.62120	TAT		0.378	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			3	45	0	0	0	0	3	45				
CLVS2	134829	broad.mit.edu	37	6	123369837	123369837	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:123369837C>T	ENST00000275162.5	+	4	1970	c.635C>T	c.(634-636)aCc>aTc	p.T212I	CLVS2_ENST00000368438.1_Missense_Mutation_p.T66I	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	212	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GCCCTGTACACCGTGATCCGG	0.393																																						uc003pzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(634-636)ACC>ATC		retinaldehyde binding protein 1-like 2							155.0	160.0	159.0					6																	123369837		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123369837C>T	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.635C>T	6.37:g.123369837C>T	ENSP00000275162:p.Thr212Ile						p.T212I	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			4	1504	+			212			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.635C>T	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678499	0.88542	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;D	0.84800	-1.9;-1.9	5.72	4.85	0.62838	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.89550	0.6747	M	0.71036	2.16	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	D	0.91139	0.4944	10	0.72032	D	0.01	0.6025	16.5219	0.84319	0.1318:0.8682:0.0:0.0	.	212	Q5SYC1	CLVS2_HUMAN	I	212;66	ENSP00000275162:T212I;ENSP00000357423:T66I	ENSP00000275162:T212I	T	+	2	0	CLVS2	123411536	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	7.445000	0.80570	1.531000	0.49152	0.650000	0.86243	ACC		0.393	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		61	127	0	0	0	0	61	127				
OLIG3	167826	broad.mit.edu	37	6	137814987	137814987	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:137814987G>A	ENST00000367734.2	-	1	544	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	107	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GCATGACTTCGCGCAGCCCGT	0.612																																						uc003qhp.1		NA																	0					0						c.(319-321)CGC>CGT		oligodendrocyte transcription factor 3							122.0	92.0	103.0					6																	137814987		2203	4300	6503	SO:0001819	synonymous_variant	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137814987G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.321C>T	6.37:g.137814987G>A							p.R107R	NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	545	-	Breast(32;0.165)|Colorectal(23;0.24)		107			Helix-loop-helix motif.		Q8N8Q0	Silent	SNP	ENST00000367734.2	37	c.321C>T	CCDS5186.1																																																																																				0.612	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		17	73	0	0	0	0	17	73				
SHPRH	257218	broad.mit.edu	37	6	146271502	146271503	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:146271502_146271503CC>AT	ENST00000367505.2	-	4	1143_1144	c.879_880GG>AT	c.(877-882)gtGGat>gtATat	p.D294Y	SHPRH_ENST00000438092.2_Missense_Mutation_p.D294Y|SHPRH_ENST00000367503.3_Missense_Mutation_p.D294Y|SHPRH_ENST00000275233.7_Missense_Mutation_p.D294Y			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	294					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCTGGACATCCACTTGGATGG	0.475																																						uc003qlf.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(877-882)GTGGAT>GTATAT		SNF2 histone linker PHD RING helicase isoform a																																				SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146271502_146271503CC>AT	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.879_880delinsAT	6.37:g.146271502_146271503delinsAT	ENSP00000356475:p.Asp294Tyr					SHPRH_uc003qld.2_Missense_Mutation_p.D294Y|SHPRH_uc003qle.2_Missense_Mutation_p.D294Y|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.D183Y|SHPRH_uc003qlk.1_Missense_Mutation_p.D294Y	p.D294Y	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	4	1278_1279	-		Ovarian(120;0.0365)	294					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	DNP	ENST00000367505.2	37	c.879_880GG>AT	CCDS43513.2																																																																																				0.475	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		51	96	0	0	0	0	51	96				
PLEKHG1	57480	broad.mit.edu	37	6	151055105	151055105	+	Silent	SNP	C	C	T	rs141401834		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:151055105C>T	ENST00000358517.2	+	2	499	c.288C>T	c.(286-288)aaC>aaT	p.N96N	PLEKHG1_ENST00000367328.1_Silent_p.N96N			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	96							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGGACTCAAACGGGGCACCCA	0.592																																						uc003qny.1		NA																	0				ovary(2)	2						c.(286-288)AAC>AAT		pleckstrin homology domain containing, family G		C		1,4405	2.1+/-5.4	0,1,2202	46.0	51.0	50.0		288	-7.0	0.0	6	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	PLEKHG1	NM_001029884.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		96/1386	151055105	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151055105C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.288C>T	6.37:g.151055105C>T						PLEKHG1_uc011eel.1_Silent_p.N136N|PLEKHG1_uc011eem.1_Silent_p.N155N|PLEKHG1_uc003qnz.2_Silent_p.N96N	p.N96N	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	3	600	+			96					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.288C>T	CCDS34552.1																																																																																				0.592	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			9	51	0	0	0	0	9	51				
AKAP12	9590	broad.mit.edu	37	6	151671537	151671537	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:151671537C>T	ENST00000253332.1	+	3	2200	c.2011C>T	c.(2011-2013)Cgc>Tgc	p.R671C	AKAP12_ENST00000359755.5_Missense_Mutation_p.R566C|AKAP12_ENST00000354675.6_Missense_Mutation_p.R573C|AKAP12_ENST00000402676.2_Missense_Mutation_p.R671C			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	671					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAACCAAAGCGCAAGGTGGA	0.507																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2011-2013)CGC>TGC		A kinase (PRKA) anchor protein 12 isoform 1							86.0	82.0	84.0					6																	151671537		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671537C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2011C>T	6.37:g.151671537C>T	ENSP00000253332:p.Arg671Cys					AKAP12_uc003qoe.2_Missense_Mutation_p.R671C|AKAP12_uc003qof.2_Missense_Mutation_p.R573C|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.R566C	p.R671C	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2251	+		Ovarian(120;0.125)	671					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2011C>T	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830543	0.71258	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.12774	2.65;2.65;2.67;2.67	5.52	5.52	0.82312	.	0.000000	0.40818	N	0.001005	T	0.27063	0.0663	M	0.73962	2.25	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.982;0.981	T	0.01027	-1.1476	10	0.56958	D	0.05	.	12.5627	0.56291	0.2788:0.7212:0.0:0.0	.	566;573;671	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	C	671;671;573;566	ENSP00000384537:R671C;ENSP00000253332:R671C;ENSP00000346702:R573C;ENSP00000352794:R566C	ENSP00000253332:R671C	R	+	1	0	AKAP12	151713230	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.026000	0.57232	2.591000	0.87537	0.650000	0.86243	CGC		0.507	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			7	57	0	0	0	0	7	57				
C6orf118	168090	broad.mit.edu	37	6	165715112	165715112	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:165715112C>A	ENST00000230301.8	-	2	719	c.699G>T	c.(697-699)aaG>aaT	p.K233N	C6orf118_ENST00000543069.1_Missense_Mutation_p.K129N	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	233										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TGAAGTCATTCTTCAGGAGAT	0.607																																						uc003qum.3		NA																	0					0						c.(697-699)AAG>AAT		hypothetical protein LOC168090							67.0	66.0	66.0					6																	165715112		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715112C>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.699G>T	6.37:g.165715112C>A	ENSP00000230301:p.Lys233Asn					C6orf118_uc011egi.1_RNA	p.K233N	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	735	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	233					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.699G>T	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	9.155	1.017134	0.19355	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.14516	2.5;2.5	4.92	-0.811	0.10857	.	0.744958	0.12737	N	0.443366	T	0.04815	0.0130	L	0.43923	1.385	0.09310	N	1	P	0.49090	0.919	P	0.44897	0.463	T	0.28004	-1.0057	10	0.62326	D	0.03	.	5.3797	0.16183	0.0:0.3932:0.2792:0.3276	.	233	Q5T5N4	CF118_HUMAN	N	233;129	ENSP00000230301:K233N;ENSP00000439288:K129N	ENSP00000230301:K233N	K	-	3	2	C6orf118	165635102	0.010000	0.17322	0.001000	0.08648	0.061000	0.15899	0.355000	0.20163	0.128000	0.18479	-0.216000	0.12614	AAG		0.607	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		21	41	1	0	1.02e-10	1.55e-10	21	41				
FAM120B	84498	broad.mit.edu	37	6	170628053	170628053	+	Missense_Mutation	SNP	C	C	A	rs375456997		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:170628053C>A	ENST00000476287.1	+	2	1683	c.1575C>A	c.(1573-1575)caC>caA	p.H525Q	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.H537Q|FAM120B_ENST00000537664.1_Missense_Mutation_p.H548Q	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	525					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGTGTACACACGCTGAAATCA	0.378																																						uc003qxp.2		NA																	0				ovary(1)	1						c.(1573-1575)CAC>CAA		family with sequence similarity 120B							76.0	77.0	77.0					6																	170628053		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170628053C>A	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1575C>A	6.37:g.170628053C>A	ENSP00000417970:p.His525Gln					FAM120B_uc003qxo.1_Missense_Mutation_p.H525Q|FAM120B_uc011ehd.1_Intron	p.H525Q	NM_032448	NP_115824	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1683	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	525					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1575C>A	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.398078	0.01175	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.07567	3.19;3.18;3.19	1.89	1.89	0.25635	.	1.154930	0.06212	N	0.685234	T	0.01387	0.0045	N	0.08118	0	0.35688	D	0.814605	P;P	0.40875	0.731;0.681	B;B	0.33254	0.16;0.129	T	0.50524	-0.8818	10	0.19590	T	0.45	0.1888	9.7747	0.40612	0.0:1.0:0.0:0.0	.	525;525	Q96EK7;F2Z2E1	F120B_HUMAN;.	Q	537;548;525	ENSP00000444125:H537Q;ENSP00000440125:H548Q;ENSP00000417970:H525Q	ENSP00000436640:H525Q	H	+	3	2	FAM120B	170469978	0.000000	0.05858	0.020000	0.16555	0.141000	0.21300	0.065000	0.14466	1.356000	0.45884	0.561000	0.74099	CAC		0.378	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		15	42	1	0	1.36e-06	1.94e-06	15	42				
GNA12	2768	broad.mit.edu	37	7	2834632	2834632	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:2834632G>A	ENST00000275364.3	-	2	617	c.455C>T	c.(454-456)cCg>cTg	p.P152L	GNA12_ENST00000407904.3_Missense_Mutation_p.P93L|GNA12_ENST00000544127.1_Missense_Mutation_p.P76L	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	152					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCTCAGGGCCGGGACGTACAG	0.592																																						uc003smu.2		NA																	0				ovary(1)	1						c.(454-456)CCG>CTG		guanine nucleotide binding protein (G protein)							97.0	96.0	96.0					7																	2834632		2203	4300	6503	SO:0001583	missense	2768				G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:2834632G>A	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.455C>T	7.37:g.2834632G>A	ENSP00000275364:p.Pro152Leu					GNA12_uc011jwb.1_Missense_Mutation_p.P152L|GNA12_uc003smt.2_Missense_Mutation_p.P93L	p.P152L	NM_007353	NP_031379	Q03113	GNA12_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	2	619	-		Ovarian(82;0.0112)	152					A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	c.455C>T	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297083	0.23650	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000544127;ENST00000447791	D;D;D	0.88354	-2.37;-2.37;-2.37	5.58	5.58	0.84498	G protein alpha subunit, helical insertion (2);	0.170931	0.52532	D	0.000073	D	0.87047	0.6080	L	0.58428	1.81	0.80722	D	1	P;B;P	0.49696	0.727;0.091;0.927	B;B;B	0.39217	0.094;0.046;0.294	D	0.88468	0.3060	10	0.54805	T	0.06	.	17.7636	0.88470	0.0:0.0:1.0:0.0	.	152;152;93	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	L	152;93;76;67	ENSP00000275364:P152L;ENSP00000385935:P93L;ENSP00000437469:P76L	ENSP00000275364:P152L	P	-	2	0	GNA12	2801158	1.000000	0.71417	0.205000	0.23548	0.174000	0.22865	4.846000	0.62860	2.641000	0.89580	0.563000	0.77884	CCG		0.592	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		5	107	0	0	0	0	5	107				
HERPUD2	64224	broad.mit.edu	37	7	35674850	35674850	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:35674850C>T	ENST00000396081.1	-	6	1640	c.836G>A	c.(835-837)tGg>tAg	p.W279*	HERPUD2_ENST00000311350.3_Nonsense_Mutation_p.W279*|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	279					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CGTGTACATCCAGTCTAGCCA	0.433																																						uc003tet.2		NA																	0				ovary(3)	3						c.(835-837)TGG>TAG		HERPUD family member 2							193.0	178.0	183.0					7																	35674850		2203	4300	6503	SO:0001587	stop_gained	64224				response to unfolded protein	integral to membrane		g.chr7:35674850C>T	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.836G>A	7.37:g.35674850C>T	ENSP00000379390:p.Trp279*					HERPUD2_uc003tes.3_Nonsense_Mutation_p.W279*	p.W279*	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN			6	1641	-			279					A4D1Y8|Q9H6F9	Nonsense_Mutation	SNP	ENST00000396081.1	37	c.836G>A	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	C	42	9.734502	0.99251	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6637	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	279	.	ENSP00000310729:W279X	W	-	2	0	HERPUD2	35641375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	TGG		0.433	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		65	39	0	0	0	0	65	39				
IGFBP1	3484	broad.mit.edu	37	7	45928415	45928415	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:45928415C>A	ENST00000275525.3	+	1	460	c.164C>A	c.(163-165)gCc>gAc	p.A55D	IGFBP1_ENST00000468955.1_Missense_Mutation_p.A55D|IGFBP1_ENST00000457280.1_Missense_Mutation_p.A55D	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	55	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				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)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						ACCCGGTCCGCCGGCTGCGGC	0.771																																						uc003tnp.2		NA																	0				lung(1)	1						c.(163-165)GCC>GAC		insulin-like growth factor binding protein 1							4.0	5.0	5.0					7																	45928415		1769	3536	5305	SO:0001583	missense	3484					extracellular space	insulin-like growth factor binding	g.chr7:45928415C>A		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.164C>A	7.37:g.45928415C>A	ENSP00000275525:p.Ala55Asp					IGFBP1_uc003tno.3_Missense_Mutation_p.A55D|IGFBP1_uc010kyn.2_Missense_Mutation_p.A55D	p.A55D	NM_000596	NP_000587	P08833	IBP1_HUMAN			1	457	+			55			IGFBP N-terminal.		A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	c.164C>A	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748510	0.69533	.	.	ENSG00000146678	ENST00000275525;ENST00000457280;ENST00000468955	T;T;T	0.56275	0.47;0.47;0.47	4.95	4.95	0.65309	Insulin-like growth factor-binding protein, IGFBP (3);	0.100859	0.64402	D	0.000001	T	0.58991	0.2161	N	0.20445	0.575	0.47341	D	0.999397	D;D;D	0.89917	1.0;0.993;0.996	D;D;D	0.77557	0.99;0.947;0.971	T	0.65315	-0.6198	10	0.87932	D	0	-10.0328	15.671	0.77274	0.0:1.0:0.0:0.0	.	55;55;55	C9J6H2;P08833;C9JXF9	.;IBP1_HUMAN;.	D	55	ENSP00000275525:A55D;ENSP00000413511:A55D;ENSP00000417069:A55D	ENSP00000275525:A55D	A	+	2	0	IGFBP1	45894940	1.000000	0.71417	0.019000	0.16419	0.009000	0.06853	5.021000	0.64072	2.288000	0.76882	0.557000	0.71058	GCC		0.771	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		7	12	1	0	1.07e-07	1.55e-07	7	12				
SEPT14	346288	broad.mit.edu	37	7	55914269	55914269	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:55914269G>T	ENST00000388975.3	-	3	232	c.116C>A	c.(115-117)cCc>cAc	p.P39H	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	39					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAACTGATTGGGCAAACATTC	0.303																																						uc003tqz.2		NA																	0					0						c.(115-117)CCC>CAC		septin 14							150.0	142.0	144.0					7																	55914269		1831	4100	5931	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55914269G>T	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.116C>A	7.37:g.55914269G>T	ENSP00000373627:p.Pro39His						p.P39H	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	233	-	Breast(14;0.214)		39					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.116C>A	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	g	21.6	4.171004	0.78452	.	.	ENSG00000154997	ENST00000388975	T	0.34667	1.35	4.4	4.4	0.53042	.	0.373188	0.21711	N	0.070273	T	0.59582	0.2204	M	0.75447	2.3	0.49582	D	0.999807	D	0.89917	1.0	D	0.69824	0.966	T	0.64769	-0.6329	10	0.87932	D	0	.	15.2825	0.73797	0.0:0.0:1.0:0.0	.	39	Q6ZU15	SEP14_HUMAN	H	39	ENSP00000373627:P39H	ENSP00000373627:P39H	P	-	2	0	SEPT14	55881763	1.000000	0.71417	0.982000	0.44146	0.925000	0.55904	8.175000	0.89684	2.385000	0.81259	0.655000	0.94253	CCC		0.303	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		50	102	1	0	1.36e-18	2.25e-18	50	102				
ZNF479	90827	broad.mit.edu	37	7	57188130	57188130	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:57188130C>T	ENST00000331162.4	-	5	1262	c.992G>A	c.(991-993)gGc>gAc	p.G331D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	331					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)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAAGGCTTTGCCACATTCCTC	0.443																																						uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(991-993)GGC>GAC		zinc finger protein 479							13.0	13.0	13.0					7																	57188130		1977	4149	6126	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188130C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.992G>A	7.37:g.57188130C>T	ENSP00000333776:p.Gly331Asp						p.G331D	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1263	-			331			C2H2-type 6.			Missense_Mutation	SNP	ENST00000331162.4	37	c.992G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	12.88	2.069877	0.36566	.	.	ENSG00000185177	ENST00000331162	T	0.07444	3.19	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13628	0.0330	L	0.35793	1.09	0.31635	N	0.648601	D	0.54207	0.965	P	0.59424	0.857	T	0.13764	-1.0497	9	0.56958	D	0.05	.	7.4806	0.27402	0.0:1.0:0.0:0.0	.	331	Q96JC4	ZN479_HUMAN	D	331	ENSP00000333776:G331D	ENSP00000333776:G331D	G	-	2	0	ZNF479	57192072	0.953000	0.32496	0.030000	0.17652	0.029000	0.11900	1.178000	0.31981	0.453000	0.26858	0.456000	0.33151	GGC		0.443	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		8	21	0	0	0	0	8	21				
CLIP2	7461	broad.mit.edu	37	7	73753270	73753270	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:73753270A>G	ENST00000395060.1	+	2	614	c.614A>G	c.(613-615)aAc>aGc	p.N205S	CLIP2_ENST00000361545.5_Missense_Mutation_p.N205S|CLIP2_ENST00000223398.6_Missense_Mutation_p.N205S			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	205						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TCGGGATCCAACCTCTCAGAC	0.677																																						uc003uam.2		NA																	0				skin(3)	3						c.(613-615)AAC>AGC		CAP-GLY domain containing linker protein 2							34.0	34.0	34.0					7																	73753270		2087	4101	6188	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73753270A>G	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.614A>G	7.37:g.73753270A>G	ENSP00000378500:p.Asn205Ser					CLIP2_uc003uan.2_Missense_Mutation_p.N205S	p.N205S	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			3	941	+			205					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.614A>G	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190759	0.78789	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.73897	-0.79;-0.79;-0.79	4.71	4.71	0.59529	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	L	0.27053	0.805	0.53688	D	0.999975	D;D	0.57899	0.981;0.967	D;D	0.70016	0.967;0.927	T	0.77284	-0.2645	10	0.42905	T	0.14	-45.3131	13.2026	0.59776	1.0:0.0:0.0:0.0	.	205;205	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	S	205	ENSP00000223398:N205S;ENSP00000355151:N205S;ENSP00000378500:N205S	ENSP00000223398:N205S	N	+	2	0	CLIP2	73391206	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	8.888000	0.92464	1.997000	0.58415	0.374000	0.22700	AAC		0.677	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		16	33	0	0	0	0	16	33				
ZP3	7784	broad.mit.edu	37	7	76058904	76058904	+	Missense_Mutation	SNP	G	G	A	rs144669807		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:76058904G>A	ENST00000394857.3	+	2	443	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	ZP3_ENST00000416245.1_5'UTR|ZP3_ENST00000336517.4_Missense_Mutation_p.V78M	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	129	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CCTGTCCATCGTGAGGACTAA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19531	0.0		0.001	False		,,,				2504	0.0					uc003ufd.3		NA																	0					0						c.(385-387)GTG>ATG		zona pellucida glycoprotein 3 isoform 1		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	120.0	89.0	100.0		385,232	-5.1	0.7	7	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZP3	NM_001110354.1,NM_007155.5	21,21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	129/425,78/374	76058904	2,13004	2203	4300	6503	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76058904G>A	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.385G>A	7.37:g.76058904G>A	ENSP00000378326:p.Val129Met					ZP3_uc003ufc.3_Missense_Mutation_p.V78M|ZP3_uc003ufe.2_Missense_Mutation_p.V37M	p.V129M	NM_001110354	NP_001103824	P21754	ZP3_HUMAN			2	395	+			129			Extracellular (Potential).|ZP.		Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	c.385G>A	CCDS47618.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.45	2.836847	0.50951	2.27E-4	1.16E-4	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121	D;D	0.82433	-1.61;-1.61	5.4	-5.09	0.02920	Zona pellucida sperm-binding protein (3);	0.697267	0.12219	N	0.488527	T	0.75517	0.3860	L	0.39898	1.24	0.38363	D	0.944678	D;D	0.60575	0.988;0.971	P;P	0.52031	0.518;0.688	T	0.73717	-0.3895	10	0.72032	D	0.01	-6.5157	2.3528	0.04288	0.1907:0.1487:0.4245:0.2361	.	78;129	P21754-3;P21754	.;ZP3_HUMAN	M	78;129;129	ENSP00000337310:V78M;ENSP00000378326:V129M	ENSP00000337310:V78M	V	+	1	0	ZP3	75896840	0.752000	0.28338	0.706000	0.30403	0.648000	0.38561	-0.299000	0.08254	-0.556000	0.06134	-0.321000	0.08615	GTG		0.597	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			14	58	0	0	0	0	14	58				
CACNA2D1	781	broad.mit.edu	37	7	81591325	81591325	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:81591325C>T	ENST00000356253.5	-	36	3142	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D951N|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D163N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	963					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTGAAGTCATCATCCTCCATC	0.483																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(2851-2853)GAT>AAT		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						116.0	109.0	111.0					7																	81591325		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591325C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2887G>A	7.37:g.81591325C>T	ENSP00000348589:p.Asp963Asn					CACNA2D1_uc011kgy.1_Missense_Mutation_p.D163N	p.D951N	NM_000722	NP_000713	P54289	CA2D1_HUMAN			36	3107	-			963			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2851G>A		.	.	.	.	.	.	.	.	.	.	C	27.4	4.830029	0.91036	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.71222	-0.55;-0.55;-0.55	5.19	5.19	0.71726	.	0.388795	0.30859	N	0.008735	T	0.78547	0.4300	M	0.67953	2.075	0.48830	D	0.999711	P;P	0.50369	0.934;0.837	P;P	0.52646	0.705;0.535	T	0.77230	-0.2664	10	0.36615	T	0.2	-4.9601	19.123	0.93371	0.0:1.0:0.0:0.0	.	163;951	B7Z658;P54289-2	.;.	N	951;970;963;163	ENSP00000349320:D951N;ENSP00000348589:D963N;ENSP00000443124:D163N	ENSP00000284088:D970N	D	-	1	0	CACNA2D1	81429261	1.000000	0.71417	0.211000	0.23655	0.931000	0.56810	6.498000	0.73679	2.591000	0.87537	0.650000	0.86243	GAT		0.483	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				56	544	0	0	0	0	56	544				
PCLO	27445	broad.mit.edu	37	7	82764156	82764156	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:82764156G>A	ENST00000333891.9	-	3	3047	c.2710C>T	c.(2710-2712)Cgt>Tgt	p.R904C	PCLO_ENST00000423517.2_Missense_Mutation_p.R904C	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGACTGAAACGCCTTGACTGC	0.542																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(2710-2712)CGT>TGT		piccolo isoform 1							148.0	146.0	146.0					7																	82764156		1955	4158	6113	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764156G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2710C>T	7.37:g.82764156G>A	ENSP00000334319:p.Arg904Cys					PCLO_uc003uhv.2_Missense_Mutation_p.R904C	p.R904C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2999	-			850			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2710C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773631	0.31411	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.23;2.22	5.97	5.97	0.96955	.	.	.	.	.	T	0.34919	0.0914	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.53861	0.736;0.736	T	0.01771	-1.1277	9	0.87932	D	0	.	19.412	0.94677	0.0:0.0:1.0:0.0	.	904;904	Q9Y6V0-5;Q9Y6V0-6	.;.	C	850;904;904	ENSP00000334319:R904C;ENSP00000388393:R904C	ENSP00000334319:R904C	R	-	1	0	PCLO	82602092	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	3.125000	0.50469	2.828000	0.97474	0.655000	0.94253	CGT		0.542	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		26	241	0	0	0	0	26	241				
MCM7	4176	broad.mit.edu	37	7	99691888	99691888	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:99691888C>T	ENST00000303887.5	-	13	2401	c.1756G>A	c.(1756-1758)Gtg>Atg	p.V586M	MIR93_ENST00000385024.1_RNA|MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.V410M	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	586	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|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)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|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)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCATCTCCACGTATGCTGCT	0.577																																						uc003usw.1		NA																	0					0						c.(1756-1758)GTG>ATG		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						95.0	91.0	92.0					7																	99691888		2203	4300	6503	SO:0001583	missense	4176				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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99691888C>T		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1756G>A	7.37:g.99691888C>T	ENSP00000307288:p.Val586Met					MCM7_uc003usv.1_Missense_Mutation_p.V410M|MCM7_uc003usx.1_Missense_Mutation_p.V410M|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank	p.V586M	NM_005916	NP_005907	P33993	MCM7_HUMAN			13	2266	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		586			Interaction with ATRIP.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1756G>A	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462319	0.84425	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.08193	3.12;3.12	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.31104	0.0786	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00945	-1.1505	10	0.87932	D	0	-18.4501	16.7464	0.85473	0.0:1.0:0.0:0.0	.	586	P33993	MCM7_HUMAN	M	586;523;479;410	ENSP00000307288:V586M;ENSP00000346171:V410M	ENSP00000307288:V586M	V	-	1	0	MCM7	99529824	1.000000	0.71417	0.968000	0.41197	0.765000	0.43378	7.155000	0.77445	2.826000	0.97356	0.561000	0.74099	GTG		0.577	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			11	60	0	0	0	0	11	60				
AP4M1	9179	broad.mit.edu	37	7	99702922	99702922	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:99702922G>A	ENST00000359593.4	+	10	945	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	AP4M1_ENST00000429084.1_Missense_Mutation_p.E270K|AP4M1_ENST00000421755.1_Missense_Mutation_p.E263K|AP4M1_ENST00000422582.1_Missense_Mutation_p.E135K	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	263	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGACGAATTTGAGTC	0.542																																					Pancreas(174;1182 2812 29595 49511)	uc003utb.3		NA																	0					0						c.(787-789)GAA>AAA		adaptor-related protein complex 4, mu 1 subunit							106.0	111.0	109.0					7																	99702922		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99702922G>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.787G>A	7.37:g.99702922G>A	ENSP00000352603:p.Glu263Lys					AP4M1_uc011kjg.1_Missense_Mutation_p.E217K|AP4M1_uc010lgl.1_Missense_Mutation_p.E263K|AP4M1_uc003utc.3_Missense_Mutation_p.E270K|AP4M1_uc010lgm.2_Missense_Mutation_p.E135K|AP4M1_uc003utd.2_Missense_Mutation_p.E263K|AP4M1_uc011kjh.1_Missense_Mutation_p.E215K|AP4M1_uc003ute.3_Missense_Mutation_p.E38K|AP4M1_uc003utf.3_Missense_Mutation_p.E135K	p.E263K	NM_004722	NP_004713	O00189	AP4M1_HUMAN			10	995	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		263			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.787G>A	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132967	0.77662	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582;ENST00000450807	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.1	5.1	0.69264	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	N	0.22421	0.69	0.80722	D	1	P;D;D;D	0.63046	0.911;0.984;0.977;0.992	B;B;P;P	0.53360	0.257;0.255;0.62;0.724	T	0.01078	-1.1459	10	0.02654	T	1	-10.6397	16.0928	0.81102	0.0:0.0:1.0:0.0	.	219;215;270;263	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	K	195;270;263;219;263;135;15	ENSP00000401613:E195K;ENSP00000403663:E270K;ENSP00000352603:E263K;ENSP00000414286:E219K;ENSP00000412185:E263K;ENSP00000406676:E135K;ENSP00000391585:E15K	ENSP00000352603:E263K	E	+	1	0	AP4M1	99540858	1.000000	0.71417	0.964000	0.40570	0.581000	0.36288	7.827000	0.86722	2.652000	0.90054	0.655000	0.94253	GAA		0.542	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		22	113	0	0	0	0	22	113				
MUC17	140453	broad.mit.edu	37	7	100682580	100682580	+	Missense_Mutation	SNP	C	C	T	rs146245479	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:100682580C>T	ENST00000306151.4	+	3	7947	c.7883C>T	c.(7882-7884)cCt>cTt	p.P2628L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2628	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCTCAACTCCTAGTGAAGTA	0.458													C|||	4	0.000798722	0.003	0.0	5008	,	,		27956	0.0		0.0	False		,,,				2504	0.0					uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7882-7884)CCT>CTT		mucin 17 precursor		A	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	239.0	242.0	241.0		7883	-0.3	0.0	7	dbSNP_134	241	0,8600		0,0,4300	yes	missense	MUC17	NM_001040105.1	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	2628/4494	100682580	2,13004	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682580C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7883C>T	7.37:g.100682580C>T	ENSP00000302716:p.Pro2628Leu					MUC17_uc010lho.1_RNA	p.P2628L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7936	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2628			Extracellular (Potential).|59 X approximate tandem repeats.|42.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7883C>T	CCDS34711.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	2.865	-0.235350	0.05983	4.54E-4	0.0	ENSG00000169876	ENST00000306151	T	0.01821	4.62	0.673	-0.283	0.12874	.	.	.	.	.	T	0.01976	0.0062	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.49495	-0.8934	9	0.19590	T	0.45	.	5.6981	0.17867	0.3179:0.682:0.0:0.0	.	2628	Q685J3	MUC17_HUMAN	L	2628	ENSP00000302716:P2628L	ENSP00000302716:P2628L	P	+	2	0	MUC17	100469300	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.708000	0.05035	-0.116000	0.11893	-1.404000	0.01136	CCT		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		255	106	0	0	0	0	255	106				
ARMC10	83787	broad.mit.edu	37	7	102738868	102738868	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:102738868G>T	ENST00000323716.3	+	7	1292	c.900G>T	c.(898-900)caG>caT	p.Q300H	ARMC10_ENST00000454559.1_Missense_Mutation_p.Q206H|ARMC10_ENST00000428183.2_Missense_Mutation_p.Q241H|ARMC10_ENST00000425331.1_Missense_Mutation_p.Q241H|ARMC10_ENST00000541300.1_Missense_Mutation_p.Q182H|ARMC10_ENST00000441711.2_Missense_Mutation_p.Q265H	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	300					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAGCTGTGCAGCCTACTTTCA	0.403																																						uc003vaw.1		NA																	0				ovary(1)	1						c.(898-900)CAG>CAT		SVH protein isoform a							77.0	73.0	75.0					7																	102738868		2203	4298	6501	SO:0001583	missense	83787				regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding	g.chr7:102738868G>T	AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.900G>T	7.37:g.102738868G>T	ENSP00000319412:p.Gln300His					ARMC10_uc003vay.1_Missense_Mutation_p.Q241H|ARMC10_uc003vax.1_Missense_Mutation_p.Q265H|ARMC10_uc003vbb.1_Missense_Mutation_p.Q206H|ARMC10_uc011kli.1_Missense_Mutation_p.Q241H|ARMC10_uc010lis.1_Missense_Mutation_p.Q182H|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Missense_Mutation_p.Q178H	p.Q300H	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN			7	1292	+			300					A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP	ENST00000323716.3	37	c.900G>T	CCDS5728.1	.	.	.	.	.	.	.	.	.	.	G	7.698	0.692452	0.15039	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000441711;ENST00000454559;ENST00000425331;ENST00000541300;ENST00000434153;ENST00000431642	T;T;T;T;T;T;T;T	0.54675	1.46;1.46;1.46;1.46;1.48;1.48;0.56;1.48	5.42	3.58	0.41010	Armadillo-type fold (1);	0.554134	0.21062	N	0.080809	T	0.63141	0.2486	L	0.58669	1.825	0.09310	N	1	B;D;P;D;P;D;D	0.71674	0.205;0.958;0.473;0.998;0.951;0.976;0.978	B;P;B;D;P;P;P	0.66196	0.098;0.66;0.208;0.942;0.847;0.857;0.878	T	0.52734	-0.8536	10	0.42905	T	0.14	1.5325	9.13	0.36839	0.0:0.1335:0.4635:0.4031	.	241;182;206;228;241;265;300	B4DWJ8;F5GX65;Q8N2F6-4;C9J5N7;Q8N2F6-3;Q8N2F6-2;Q8N2F6	.;.;.;.;.;.;ARM10_HUMAN	H	300;241;265;206;241;182;228;142	ENSP00000319412:Q300H;ENSP00000396654:Q241H;ENSP00000413619:Q265H;ENSP00000405612:Q206H;ENSP00000397969:Q241H;ENSP00000440463:Q182H;ENSP00000398201:Q228H;ENSP00000406840:Q142H	ENSP00000319412:Q300H	Q	+	3	2	ARMC10	102526104	0.003000	0.15002	0.001000	0.08648	0.465000	0.32709	1.251000	0.32862	0.748000	0.32831	0.591000	0.81541	CAG		0.403	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905		16	63	1	0	1.75e-11	2.7e-11	16	63				
FOXP2	93986	broad.mit.edu	37	7	114284743	114284743	+	Silent	SNP	G	G	C	rs200003519		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:114284743G>C	ENST00000393494.2	+	8	1272	c.993G>C	c.(991-993)tcG>tcC	p.S331S	FOXP2_ENST00000403559.4_Silent_p.S348S|FOXP2_ENST00000393491.3_Silent_p.S239S|FOXP2_ENST00000393498.2_Silent_p.S310S|FOXP2_ENST00000393500.3_Silent_p.S256S|FOXP2_ENST00000350908.4_Silent_p.S331S|FOXP2_ENST00000378237.3_Silent_p.S331S|FOXP2_ENST00000393489.3_Silent_p.S239S|FOXP2_ENST00000360232.4_Silent_p.S331S|FOXP2_ENST00000390668.3_Silent_p.S355S|FOXP2_ENST00000408937.3_Silent_p.S356S			O15409	FOXP2_HUMAN	forkhead box P2	331					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S356S(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCTACAGCTCGTCACATGAGG	0.468																																						uc003vhb.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(991-993)TCG>TCC		forkhead box P2 isoform I							83.0	76.0	78.0					7																	114284743		2203	4300	6503	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114284743G>C	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.993G>C	7.37:g.114284743G>C						FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.S356S|FOXP2_uc003vha.2_Silent_p.S239S|FOXP2_uc011kmu.1_Silent_p.S348S|FOXP2_uc011kmv.1_Silent_p.S330S|FOXP2_uc010ljz.1_Silent_p.S239S|FOXP2_uc003vgx.2_Silent_p.S331S|FOXP2_uc003vhd.2_Silent_p.S331S|FOXP2_uc003vhc.2_Silent_p.S356S	p.S331S	NM_014491	NP_055306	O15409	FOXP2_HUMAN			8	1367	+			331					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.993G>C	CCDS5760.1																																																																																				0.468	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	37	0	0	0	0	5	37				
POT1	25913	broad.mit.edu	37	7	124475372	124475372	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:124475372G>A	ENST00000357628.3	-	15	2064	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	POT1_ENST00000393329.1_Missense_Mutation_p.S358L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	489					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AAATGGTGCTGAAAGGTCCAA	0.358																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NA																	0				central_nervous_system(1)	1						c.(1465-1467)TCA>TTA		protection of telomeres 1 isoform 1							164.0	163.0	163.0					7																	124475372		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124475372G>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1466C>T	7.37:g.124475372G>A	ENSP00000350249:p.Ser489Leu					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.S358L|POT1_uc003vln.2_RNA	p.S489L	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			15	2067	-			489					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.1466C>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641800	0.67244	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000265391	T;T	0.53857	0.6;0.6	5.3	4.35	0.52113	.	0.200973	0.44688	D	0.000425	T	0.51261	0.1664	M	0.71581	2.175	0.41833	D	0.990088	P	0.44429	0.835	B	0.38378	0.272	T	0.63070	-0.6719	10	0.87932	D	0	-12.2474	13.7709	0.63023	0.0:0.0:0.8459:0.1541	.	489	Q9NUX5	POTE1_HUMAN	L	489;358;489;488	ENSP00000350249:S489L;ENSP00000377002:S358L	ENSP00000265391:S488L	S	-	2	0	POT1	124262608	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.188000	0.65093	2.642000	0.89623	0.591000	0.81541	TCA		0.358	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			13	71	0	0	0	0	13	71				
OR2A2	442361	broad.mit.edu	37	7	143807030	143807030	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:143807030T>A	ENST00000408979.2	+	1	424	c.355T>A	c.(355-357)Tat>Aat	p.Y119N		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	119						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(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGTGATGTCCTATGATAGGTA	0.463																																						uc011ktz.1		NA																	0				skin(2)	2						c.(355-357)TAT>AAT		olfactory receptor, family 2, subfamily A,							195.0	180.0	185.0					7																	143807030		2103	4258	6361	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807030T>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.355T>A	7.37:g.143807030T>A	ENSP00000386209:p.Tyr119Asn						p.Y119N	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	355	+	Melanoma(164;0.0783)		119			Helical; Name=3; (Potential).		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.355T>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.262083	0.59431	.	.	ENSG00000221989	ENST00000408979	T	0.00490	7.03	3.61	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30850	U	0.008746	T	0.01627	0.0052	H	0.95437	3.67	0.35920	D	0.831756	D	0.57899	0.981	P	0.61201	0.885	T	0.27365	-1.0076	10	0.87932	D	0	-14.6992	7.424	0.27088	0.1945:0.0:0.0:0.8055	.	119	Q6IF42	OR2A2_HUMAN	N	119	ENSP00000386209:Y119N	ENSP00000386209:Y119N	Y	+	1	0	OR2A2	143437963	0.975000	0.34042	0.996000	0.52242	0.831000	0.47069	4.573000	0.60893	0.529000	0.28599	0.496000	0.49642	TAT		0.463	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			96	41	0	0	0	0	96	41				
HTR5A	3361	broad.mit.edu	37	7	154862941	154862941	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr7:154862941G>T	ENST00000287907.2	+	1	908	c.332G>T	c.(331-333)cGg>cTg	p.R111L	HTR5A-AS1_ENST00000395731.2_Silent_p.R25R|HTR5A-AS1_ENST00000543018.1_Silent_p.R25R|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	111					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CAGCTAGGTCGGAGGCTGTGC	0.667																																						uc003wlu.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(331-333)CGG>CTG		5-hydroxytryptamine receptor 5A							51.0	42.0	45.0					7																	154862941		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862941G>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.332G>T	7.37:g.154862941G>T	ENSP00000287907:p.Arg111Leu					uc011kvt.1_Silent_p.R25R|uc003wlt.2_Silent_p.R25R	p.R111L	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	396	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	111			Extracellular (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.332G>T	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717373	0.48622	.	.	ENSG00000157219	ENST00000287907	T	0.72835	-0.69	4.52	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.121154	0.56097	D	0.000034	T	0.69602	0.3129	M	0.67625	2.065	0.54753	D	0.999986	B	0.24483	0.104	B	0.29176	0.099	T	0.67787	-0.5580	10	0.39692	T	0.17	.	14.4783	0.67562	0.0:0.148:0.852:0.0	.	111	P47898	5HT5A_HUMAN	L	111	ENSP00000287907:R111L	ENSP00000287907:R111L	R	+	2	0	HTR5A	154493874	0.955000	0.32602	0.995000	0.50966	0.774000	0.43823	5.216000	0.65246	1.081000	0.41110	0.563000	0.77884	CGG		0.667	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		12	30	1	0	1.58e-08	2.32e-08	12	30				
PIWIL2	55124	broad.mit.edu	37	8	22167481	22167481	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:22167481G>T	ENST00000454009.2	+	15	2203	c.1694G>T	c.(1693-1695)gGa>gTa	p.G565V	PIWIL2_ENST00000521356.1_Missense_Mutation_p.G565V|PIWIL2_ENST00000356766.6_Missense_Mutation_p.G565V	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	565					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TAGATTGAAGGACGTGTTCTG	0.388																																						uc003xbn.2		NA																	0				skin(1)	1						c.(1693-1695)GGA>GTA		piwi-like 2							117.0	118.0	118.0					8																	22167481		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22167481G>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1694G>T	8.37:g.22167481G>T	ENSP00000406956:p.Gly565Val					PIWIL2_uc011kzf.1_Missense_Mutation_p.G565V|PIWIL2_uc010ltv.2_Missense_Mutation_p.G565V	p.G565V	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	15	1842	+			565					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1694G>T	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290039	0.80914	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.08102	3.13;3.13;3.13	6.03	6.03	0.97812	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	M	0.81341	2.54	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.71414	0.973;0.926	T	0.01024	-1.1477	10	0.87932	D	0	6.0E-4	17.4736	0.87653	0.0:0.0:1.0:0.0	.	565;565	E7ECA4;Q8TC59	.;PIWL2_HUMAN	V	565	ENSP00000349208:G565V;ENSP00000428267:G565V;ENSP00000406956:G565V	ENSP00000349208:G565V	G	+	2	0	PIWIL2	22223426	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.267000	0.78462	2.861000	0.98227	0.655000	0.94253	GGA		0.388	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			28	23	1	0	2.13e-12	3.32e-12	28	23				
PURG	29942	broad.mit.edu	37	8	30889770	30889770	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:30889770C>G	ENST00000475541.1	-	1	1461	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.E177Q	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	177						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTGTCCCTCTCGATATAGTCT	0.532																																						uc003xin.2		NA																	0					0						c.(529-531)GAG>CAG		purine-rich element binding protein G isoform A							73.0	76.0	75.0					8																	30889770		2203	4300	6503	SO:0001583	missense	29942					nucleus	DNA binding	g.chr8:30889770C>G	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.529G>C	8.37:g.30889770C>G	ENSP00000418721:p.Glu177Gln					WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.E177Q	p.E177Q	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	548	-			177			By similarity.		Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	c.529G>C	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981303	0.53827	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.30981	1.51;1.51	5.26	4.36	0.52297	.	0.300334	0.29638	N	0.011600	T	0.28962	0.0719	N	0.13299	0.325	0.48762	D	0.999709	P;P	0.50528	0.878;0.936	P;P	0.54460	0.753;0.639	T	0.02893	-1.1097	10	0.13853	T	0.58	-2.3848	15.275	0.73734	0.0:0.8589:0.1411:0.0	.	177;177	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	Q	177	ENSP00000345168:E177Q;ENSP00000418721:E177Q	ENSP00000345168:E177Q	E	-	1	0	PURG	31009312	1.000000	0.71417	0.976000	0.42696	0.988000	0.76386	7.818000	0.86416	1.158000	0.42547	0.655000	0.94253	GAG		0.532	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		14	58	0	0	0	0	14	58				
PURG	29942	broad.mit.edu	37	8	30889786	30889786	+	Silent	SNP	C	C	G	rs371756390		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:30889786C>G	ENST00000475541.1	-	1	1445	c.513G>C	c.(511-513)ctG>ctC	p.L171L	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Silent_p.L171L	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	171						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AGTCTGTTTTCAGGACACTGT	0.527																																						uc003xin.2		NA																	0					0						c.(511-513)CTG>CTC		purine-rich element binding protein G isoform A							75.0	80.0	78.0					8																	30889786		2203	4300	6503	SO:0001819	synonymous_variant	29942					nucleus	DNA binding	g.chr8:30889786C>G	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.513G>C	8.37:g.30889786C>G						WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.L171L	p.L171L	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	532	-			171			By similarity.		Q8TE64	Silent	SNP	ENST00000475541.1	37	c.513G>C	CCDS6081.1																																																																																				0.527	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		15	74	0	0	0	0	15	74				
PURG	29942	broad.mit.edu	37	8	30890041	30890041	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:30890041C>G	ENST00000475541.1	-	1	1190	c.258G>C	c.(256-258)aaG>aaC	p.K86N	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.K86N	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	86						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CTTCGGCTATCTTTAGGAAGC	0.552																																						uc003xin.2		NA																	0					0						c.(256-258)AAG>AAC		purine-rich element binding protein G isoform A							61.0	57.0	59.0					8																	30890041		2203	4300	6503	SO:0001583	missense	29942					nucleus	DNA binding	g.chr8:30890041C>G	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.258G>C	8.37:g.30890041C>G	ENSP00000418721:p.Lys86Asn					WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.K86N	p.K86N	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	277	-			86			By similarity.		Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	c.258G>C	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108980	0.77096	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.48201	0.82;0.82	4.99	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.991	T	0.77250	-0.2657	10	0.87932	D	0	-10.4168	12.4315	0.55577	0.0:0.9177:0.0:0.0823	.	86;86	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	N	86	ENSP00000345168:K86N;ENSP00000418721:K86N	ENSP00000345168:K86N	K	-	3	2	PURG	31009583	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.177000	0.50871	2.299000	0.77371	0.462000	0.41574	AAG		0.552	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		7	26	0	0	0	0	7	26				
IKBKB	3551	broad.mit.edu	37	8	42171930	42171930	+	Silent	SNP	C	C	T	rs150493359		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:42171930C>T	ENST00000520810.1	+	9	969	c.783C>T	c.(781-783)taC>taT	p.Y261Y	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.Y259Y|IKBKB_ENST00000416505.2_Silent_p.Y202Y|IKBKB_ENST00000379708.3_Silent_p.Y38Y	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTTTACCCTACCCCAATAATC	0.433																																						uc003xow.1		NA																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(781-783)TAC>TAT		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)	C	,,	1,4405	2.1+/-5.4	0,1,2202	248.0	218.0	228.0		777,606,783	3.9	1.0	8	dbSNP_134	228	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	IKBKB	NM_001190720.2,NM_001242778.1,NM_001556.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	259/755,202/698,261/757	42171930	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42171930C>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.783C>T	8.37:g.42171930C>T						IKBKB_uc003xov.2_Silent_p.Y261Y|IKBKB_uc010lxh.1_Silent_p.Y156Y|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.Y38Y|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.Y259Y|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.Y202Y	p.Y261Y	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		9	960	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	261			Protein kinase.		B4DZ30|B4E0U4|O75327	Silent	SNP	ENST00000520810.1	37	c.783C>T	CCDS6128.1																																																																																				0.433	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			42	90	0	0	0	0	42	90				
ST18	9705	broad.mit.edu	37	8	53084518	53084518	+	Silent	SNP	C	C	T	rs149814559		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:53084518C>T	ENST00000276480.7	-	10	1586	c.903G>A	c.(901-903)ggG>ggA	p.G301G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	301					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AACTTAAATTCCCCTTGGCCT	0.527																																						uc003xqz.2		NA																	0				ovary(4)|skin(1)	5						c.(901-903)GGG>GGA		suppression of tumorigenicity 18							91.0	86.0	88.0					8																	53084518		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084518C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.903G>A	8.37:g.53084518C>T						ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.G266G|ST18_uc011lds.1_Silent_p.G206G|ST18_uc003xra.2_Silent_p.G301G|ST18_uc003xrb.2_Silent_p.G301G	p.G301G	NM_014682	NP_055497	O60284	ST18_HUMAN			5	1059	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	301					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.903G>A	CCDS6149.1																																																																																				0.527	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			22	40	0	0	0	0	22	40				
CHD7	55636	broad.mit.edu	37	8	61769309	61769309	+	Silent	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:61769309G>A	ENST00000423902.2	+	34	7949	c.7470G>A	c.(7468-7470)tcG>tcA	p.S2490S	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2490					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGCCTTTCGCGCACACCCA	0.483																																						uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(7468-7470)TCG>TCA		chromodomain helicase DNA binding protein 7							149.0	146.0	147.0					8																	61769309		1950	4151	6101	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61769309G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7470G>A	8.37:g.61769309G>A							p.S2490S	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		34	7947	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2490					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.7470G>A	CCDS47865.1																																																																																				0.483	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		31	165	0	0	0	0	31	165				
NBN	4683	broad.mit.edu	37	8	90960066	90960066	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:90960066C>G	ENST00000265433.3	-	12	2054	c.1900G>C	c.(1900-1902)Gct>Cct	p.A634P	NBN_ENST00000409330.1_Missense_Mutation_p.A552P	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	634					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATTTCTTTAGCTGACCATAGT	0.303								Homologous recombination																														uc003yej.1		NA																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.(1900-1902)GCT>CCT	Direct_reversal_of_damage|Homologous_recombination	nibrin							82.0	75.0	77.0					8																	90960066		2199	4295	6494	SO:0001583	missense	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90960066C>G	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1900G>C	8.37:g.90960066C>G	ENSP00000265433:p.Ala634Pro					NBN_uc003yei.1_Missense_Mutation_p.A552P|NBN_uc011lgb.1_Missense_Mutation_p.A634P	p.A634P	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		12	2010	-			634					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1900G>C	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	6.588	0.476774	0.12521	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.59502	1.92;0.26	5.12	0.892	0.19230	.	1.402550	0.04254	N	0.339215	T	0.33818	0.0876	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.04013	0.001;0.001	T	0.19976	-1.0289	10	0.41790	T	0.15	-0.6014	1.3048	0.02086	0.1462:0.1863:0.1505:0.517	.	634;634	A6H8Y5;O60934	.;NBN_HUMAN	P	634;552	ENSP00000265433:A634P;ENSP00000386924:A552P	ENSP00000265433:A634P	A	-	1	0	NBN	91029242	0.108000	0.22018	0.215000	0.23724	0.031000	0.12232	0.441000	0.21611	0.260000	0.21731	-1.692000	0.00727	GCT		0.303	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		2	6	0	0	0	0	2	6				
KCNS2	3788	broad.mit.edu	37	8	99440930	99440930	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:99440930G>T	ENST00000287042.4	+	2	1073	c.723G>T	c.(721-723)gaG>gaT	p.E241D	KCNS2_ENST00000521839.1_Missense_Mutation_p.E241D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	241					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCACATTTGAGCTGGTGGCCA	0.532																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2		NA																	0				ovary(1)	1						c.(721-723)GAG>GAT		potassium voltage-gated channel,							170.0	171.0	171.0					8																	99440930		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440930G>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.723G>T	8.37:g.99440930G>T	ENSP00000287042:p.Glu241Asp						p.E241D	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1073	+	Breast(36;2.4e-06)		241			Helical; Name=Segment S2; (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.723G>T	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537704	0.65085	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.98192	-4.78;-4.78	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98710	0.9567	M	0.73430	2.235	0.47245	D	0.999369	D	0.69078	0.997	D	0.76071	0.987	D	0.98965	1.0799	10	0.87932	D	0	.	14.2055	0.65732	0.0761:0.0:0.9239:0.0	.	241	Q9ULS6	KCNS2_HUMAN	D	241	ENSP00000287042:E241D;ENSP00000430712:E241D	ENSP00000287042:E241D	E	+	3	2	KCNS2	99510106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.174000	0.58256	2.884000	0.98904	0.655000	0.94253	GAG		0.532	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		49	66	1	0	2.65e-19	4.43e-19	49	66				
CSMD3	114788	broad.mit.edu	37	8	114111143	114111144	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:114111143_114111144GG>TT	ENST00000297405.5	-	5	1002_1003	c.758_759CC>AA	c.(757-759)tCC>tAA	p.S253*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S213*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S253*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S253*|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	253	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTAGGGCTGGATATGATGCC	0.381										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(757-759)TCC>TAA		CUB and Sushi multiple domains 3 isoform 1																																				SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:114111143_114111144GG>TT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.758_759delinsTT	8.37:g.114111143_114111144delinsTT	ENSP00000297405:p.Ser253*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Nonsense_Mutation_p.S213*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S253*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.S253*	p.S253*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			5	917_918	-			253			Extracellular (Potential).|CUB 2.		Q96PZ3	Nonsense_Mutation	DNP	ENST00000297405.5	37	c.758_759CC>AA	CCDS6315.1																																																																																				0.381	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	34	0	0	0	0	7	34				
SNTB1	6641	broad.mit.edu	37	8	121587411	121587411	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:121587411T>C	ENST00000395601.3	-	5	1465	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	SNTB1_ENST00000517992.1_Missense_Mutation_p.K351E|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	351	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AAAAGGTCTTTCTCAGTCAGC	0.512																																						uc010mdg.2		NA																	0				skin(5)	5						c.(1051-1053)AAA>GAA		basic beta 1 syntrophin							180.0	164.0	170.0					8																	121587411		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121587411T>C	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1051A>G	8.37:g.121587411T>C	ENSP00000378965:p.Lys351Glu					SNTB1_uc003ype.2_Missense_Mutation_p.K351E	p.K351E	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1277	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		351			PH 2.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.1051A>G	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	T	33	5.205130	0.95033	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.75821	-0.97;-0.97	6.01	6.01	0.97437	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86401	0.5924	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.85130	0.973;0.997	D	0.86746	0.1957	10	0.49607	T	0.09	.	16.5285	0.84344	0.0:0.0:0.0:1.0	.	351;351	Q13884;Q13884-2	SNTB1_HUMAN;.	E	351	ENSP00000378965:K351E;ENSP00000431124:K351E	ENSP00000378965:K351E	K	-	1	0	SNTB1	121656592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.303000	0.78871	2.307000	0.77673	0.528000	0.53228	AAA		0.512	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		55	99	0	0	0	0	55	99				
WISP1	8840	broad.mit.edu	37	8	134225121	134225121	+	Silent	SNP	C	C	A	rs201677592	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:134225121C>A	ENST00000250160.6	+	2	190	c.84C>A	c.(82-84)gcC>gcA	p.A28A	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Silent_p.A28A|WISP1_ENST00000517423.1_Silent_p.A28A	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	28					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TCTCTCCAGCCCCTACGACCA	0.647																																						uc003yub.2		NA																	0				central_nervous_system(1)|kidney(1)	2						c.(82-84)GCC>GCA		WNT1 inducible signaling pathway protein 1							20.0	20.0	20.0					8																	134225121		2199	4295	6494	SO:0001819	synonymous_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134225121C>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.84C>A	8.37:g.134225121C>A						WISP1_uc003yuc.2_Silent_p.A28A|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Silent_p.A28A|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_5'Flank	p.A28A	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		2	160	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		28					A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.84C>A	CCDS6371.1																																																																																				0.647	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		7	9	1	0	8.13e-05	0.000110462	7	9				
FAM135B	51059	broad.mit.edu	37	8	139151264	139151264	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:139151264C>T	ENST00000395297.1	-	18	4036	c.3866G>A	c.(3865-3867)cGc>cAc	p.R1289H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1289										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAACATTTGCGCAAATCAGC	0.438										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(3865-3867)CGC>CAC		hypothetical protein LOC51059							133.0	128.0	129.0					8																	139151264		1877	4117	5994	SO:0001583	missense	51059							g.chr8:139151264C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3866G>A	8.37:g.139151264C>T	ENSP00000378710:p.Arg1289His	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.R1190H|FAM135B_uc003yuz.2_RNA	p.R1289H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4037	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1289					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3866G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	34	5.406433	0.96051	.	.	ENSG00000147724	ENST00000395297	T	0.42900	0.96	5.58	5.58	0.84498	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73452	-0.3978	10	0.87932	D	0	-20.3154	18.5599	0.91096	0.0:1.0:0.0:0.0	.	1289	Q49AJ0	F135B_HUMAN	H	1289	ENSP00000378710:R1289H	ENSP00000378710:R1289H	R	-	2	0	FAM135B	139220446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.644000	0.89710	0.655000	0.94253	CGC		0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		18	56	0	0	0	0	18	56				
COL22A1	169044	broad.mit.edu	37	8	139691866	139691866	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:139691866A>T	ENST00000303045.6	-	40	3512	c.3066T>A	c.(3064-3066)tgT>tgA	p.C1022*	COL22A1_ENST00000341807.4_Intron|COL22A1_ENST00000435777.1_Intron	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1022	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGACCTTAACACATTGCCCTC	0.408										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(3064-3066)TGT>TGA		collagen, type XXII, alpha 1							173.0	152.0	159.0					8																	139691866		2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139691866A>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3066T>A	8.37:g.139691866A>T	ENSP00000303153:p.Cys1022*	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Intron	p.C1022*	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		40	3513	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1022			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.3066T>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	A	42	9.260796	0.99117	.	.	ENSG00000169436	ENST00000303045	.	.	.	2.58	1.41	0.22369	.	1.151390	0.06667	U	0.765452	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	4.3921	0.11346	0.8378:0.0:0.1622:0.0	.	.	.	.	X	1022	.	ENSP00000303153:C1022X	C	-	3	2	COL22A1	139761048	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.495000	0.35627	0.407000	0.25591	-0.464000	0.05259	TGT		0.408	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		24	51	0	0	0	0	24	51				
AGO2	27161	broad.mit.edu	37	8	141561467	141561467	+	Silent	SNP	G	G	A	rs142051728		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:141561467G>A	ENST00000220592.5	-	11	1450	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	AGO2_ENST00000519980.1_Silent_p.I446I	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	446					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)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CCTTGATCTCGATGCCCGTGT	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16473	0.0		0.0	False		,,,				2504	0.0					uc003yvn.2		NA																	0					0						c.(1336-1338)ATC>ATT		argonaute 2 isoform 1		G	,	3,4403	6.2+/-15.9	0,3,2200	92.0	88.0	89.0		1338,1338	-2.8	1.0	8	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EIF2C2	NM_001164623.1,NM_012154.3	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	446/826,446/860	141561467	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141561467G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1338C>T	8.37:g.141561467G>A						EIF2C2_uc010men.2_Silent_p.I369I|EIF2C2_uc010meo.2_Silent_p.I446I	p.I446I	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		11	1378	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	446					Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.1338C>T	CCDS6380.1																																																																																				0.592	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			40	65	0	0	0	0	40	65				
CYP11B1	1584	broad.mit.edu	37	8	143961004	143961004	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:143961004C>G	ENST00000292427.4	-	1	258	c.226G>C	c.(226-228)Ggg>Cgg	p.G76R	CYP11B1_ENST00000377675.3_Missense_Mutation_p.G76R|CYP11B1_ENST00000517471.1_Missense_Mutation_p.G76R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	76					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AAAATGGGCCCTAGTTCCTGG	0.632									Familial Hyperaldosteronism type I																													uc003yxi.2		NA																	0				ovary(3)	3						c.(226-228)GGG>CGG		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						79.0	74.0	76.0					8																	143961004		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143961004C>G	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.226G>C	8.37:g.143961004C>G	ENSP00000292427:p.Gly76Arg					CYP11B1_uc003yxj.2_Missense_Mutation_p.G76R|CYP11B1_uc010mey.2_Missense_Mutation_p.G76R	p.G76R	NM_000497	NP_000488	P15538	C11B1_HUMAN			1	233	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		76					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.226G>C	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289365	0.59976	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;D	0.95853	-1.16;1.86;-3.83	3.13	3.13	0.36017	.	0.000000	0.42682	D	0.000672	D	0.97436	0.9161	M	0.87617	2.895	0.50039	D	0.999845	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97459	1.0033	10	0.87932	D	0	.	10.4084	0.44278	0.0:1.0:0.0:0.0	.	76;76;76	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	R	76	ENSP00000292427:G76R;ENSP00000428043:G76R;ENSP00000366903:G76R	ENSP00000292427:G76R	G	-	1	0	CYP11B1	143958006	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	4.662000	0.61525	1.677000	0.50941	0.484000	0.47621	GGG		0.632	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			31	69	0	0	0	0	31	69				
TOP1MT	116447	broad.mit.edu	37	8	144403486	144403486	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:144403486C>A	ENST00000329245.4	-	8	1065	c.1031G>T	c.(1030-1032)cGc>cTc	p.R344L	TOP1MT_ENST00000521193.1_Missense_Mutation_p.R246L|TOP1MT_ENST00000523676.1_Missense_Mutation_p.R246L|TOP1MT_ENST00000519148.1_Missense_Mutation_p.R246L	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	344					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GTGCTCCACGCGGAGGGAACA	0.607																																						uc003yxz.2		NA																	0				ovary(1)	1						c.(1030-1032)CGC>CTC		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)						107.0	93.0	98.0					8																	144403486		2202	4300	6502	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144403486C>A	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1031G>T	8.37:g.144403486C>A	ENSP00000328835:p.Arg344Leu					TOP1MT_uc011lkd.1_Missense_Mutation_p.R246L|TOP1MT_uc011lke.1_Missense_Mutation_p.R246L|TOP1MT_uc010mfb.2_Missense_Mutation_p.R246L|TOP1MT_uc011lkf.1_Missense_Mutation_p.R139L|TOP1MT_uc010mfd.1_Missense_Mutation_p.R139L	p.R344L	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		8	1050	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		344					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.1031G>T	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639199	0.47153	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	3.97	2.06	0.26882	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, C-terminal (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.158659	0.29172	U	0.012927	T	0.71592	0.3358	H	0.94423	3.535	0.58432	D	0.999998	D;D	0.76494	0.999;0.994	D;D	0.71656	0.974;0.962	T	0.73297	-0.4027	10	0.87932	D	0	.	7.5942	0.28037	0.1603:0.7481:0.0:0.0916	.	139;344	E7ESI1;Q969P6	.;TOP1M_HUMAN	L	344;246;246;246	ENSP00000328835:R344L;ENSP00000428369:R246L;ENSP00000429169:R246L;ENSP00000429181:R246L	ENSP00000328835:R344L	R	-	2	0	TOP1MT	144474861	0.956000	0.32656	0.477000	0.27303	0.169000	0.22640	3.667000	0.54547	0.597000	0.29811	-0.426000	0.05927	CGC		0.607	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		29	33	1	0	3.99e-17	6.53e-17	29	33				
PLEC	5339	broad.mit.edu	37	8	144992693	144992693	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:144992693G>A	ENST00000322810.4	-	32	11876	c.11707C>T	c.(11707-11709)Cgg>Tgg	p.R3903W	PLEC_ENST00000345136.3_Missense_Mutation_p.R3766W|PLEC_ENST00000527096.1_Missense_Mutation_p.R3789W|PLEC_ENST00000436759.2_Missense_Mutation_p.R3793W|PLEC_ENST00000354958.2_Missense_Mutation_p.R3744W|PLEC_ENST00000356346.3_Missense_Mutation_p.R3752W|PLEC_ENST00000398774.2_Missense_Mutation_p.R3734W|PLEC_ENST00000357649.2_Missense_Mutation_p.R3770W|PLEC_ENST00000354589.3_Missense_Mutation_p.R3766W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3903	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGACCGCCCGCTCAGCCGAG	0.677																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11707-11709)CGG>TGG		plectin isoform 1							8.0	11.0	10.0					8																	144992693		1951	4038	5989	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144992693G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11707C>T	8.37:g.144992693G>A	ENSP00000323856:p.Arg3903Trp					PLEC_uc003zab.1_Missense_Mutation_p.R3766W|PLEC_uc003zac.1_Missense_Mutation_p.R3770W|PLEC_uc003zad.2_Missense_Mutation_p.R3766W|PLEC_uc003zae.1_Missense_Mutation_p.R3734W|PLEC_uc003zag.1_Missense_Mutation_p.R3744W|PLEC_uc003zah.2_Missense_Mutation_p.R3752W|PLEC_uc003zaj.2_Missense_Mutation_p.R3793W	p.R3903W	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11877	-			3903			Globular 2.|Plectin 19.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11707C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	2.144	-0.396134	0.04899	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	4.22	2.3	0.28687	.	0.000000	0.64402	U	0.000019	T	0.58206	0.2106	M	0.71206	2.165	0.48135	D	0.999596	P;P;P;B;P;P;P;P	0.51057	0.572;0.572;0.572;0.436;0.572;0.941;0.941;0.941	B;B;B;B;B;B;B;B	0.39027	0.117;0.117;0.117;0.055;0.117;0.288;0.288;0.288	T	0.61451	-0.7060	10	0.87932	D	0	.	5.8992	0.18957	0.0986:0.0:0.5282:0.3732	.	3793;3752;3744;3903;3734;3766;3770;3766	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	W	3766;3770;3766;3734;3903;3744;3752;3793;3789	ENSP00000344848:R3766W;ENSP00000350277:R3770W;ENSP00000346602:R3766W;ENSP00000381756:R3734W;ENSP00000323856:R3903W;ENSP00000347044:R3744W;ENSP00000348702:R3752W;ENSP00000388180:R3793W;ENSP00000434583:R3789W	ENSP00000323856:R3903W	R	-	1	2	PLEC	145064681	1.000000	0.71417	0.986000	0.45419	0.016000	0.09150	3.019000	0.49635	0.987000	0.38709	-0.397000	0.06425	CGG		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	18	0	0	0	0	7	18				
PLEC	5339	broad.mit.edu	37	8	144996154	144996154	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:144996154G>C	ENST00000322810.4	-	32	8415	c.8246C>G	c.(8245-8247)tCa>tGa	p.S2749*	PLEC_ENST00000345136.3_Nonsense_Mutation_p.S2612*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.S2635*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.S2639*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.S2590*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.S2598*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.S2580*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.S2616*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.S2612*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2749	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACCTCCTCTGAGTGCGCCAG	0.692																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8245-8247)TCA>TGA		plectin isoform 1							12.0	16.0	15.0					8																	144996154		2030	4079	6109	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996154G>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8246C>G	8.37:g.144996154G>C	ENSP00000323856:p.Ser2749*					PLEC_uc003zab.1_Nonsense_Mutation_p.S2612*|PLEC_uc003zac.1_Nonsense_Mutation_p.S2616*|PLEC_uc003zad.2_Nonsense_Mutation_p.S2612*|PLEC_uc003zae.1_Nonsense_Mutation_p.S2580*|PLEC_uc003zag.1_Nonsense_Mutation_p.S2590*|PLEC_uc003zah.2_Nonsense_Mutation_p.S2598*|PLEC_uc003zaj.2_Nonsense_Mutation_p.S2639*	p.S2749*	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	8416	-			2749			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.8246C>G	CCDS43772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.230732|12.230732	0.99648|0.99648	.|.	.|.	ENSG00000178209|ENSG00000178209	ENST00000527303|ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.|.	.|.	.|.	3.76|3.76	3.76|3.76	0.43208|0.43208	.|.	.|0.507528	.|0.16956	.|U	.|0.192696	T|.	0.45357|.	0.1338|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18681|.	-1.0329|.	4|.	.|0.09084	.|T	.|0.74	.|.	11.1144|11.1144	0.48252|0.48252	0.0:0.0:0.7659:0.2341|0.0:0.0:0.7659:0.2341	.|.	.|.	.|.	.|.	E|X	182|2612;2616;2612;2580;2749;2590;2598;2639;2635	.|.	.|ENSP00000323856:S2749X	Q|S	-|-	1|2	0|0	PLEC|PLEC	145068142|145068142	0.850000|0.850000	0.29656|0.29656	0.086000|0.086000	0.20670|0.20670	0.137000|0.137000	0.21094|0.21094	3.554000|3.554000	0.53720|0.53720	2.100000|2.100000	0.63781|0.63781	0.448000|0.448000	0.29417|0.29417	CAG|TCA		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	34	0	0	0	0	3	34				
SLC52A2	79581	broad.mit.edu	37	8	145583729	145583729	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:145583729G>A	ENST00000532887.1	+	3	1160	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A193T|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A105T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A193T|FBXL6_ENST00000331890.5_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	193					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GCGTTTTCCCGCCAGCACCTT	0.662																																						uc003zcc.1		NA																	0					0						c.(577-579)GCC>ACC		G protein-coupled receptor 172A precursor							53.0	56.0	55.0					8																	145583729		2203	4298	6501	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583729G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.577G>A	8.37:g.145583729G>A	ENSP00000436768:p.Ala193Thr					FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.A193T|GPR172A_uc003zce.1_Missense_Mutation_p.A193T|GPR172A_uc010mfy.1_Missense_Mutation_p.A193T|GPR172A_uc003zcf.1_Missense_Mutation_p.A193T|GPR172A_uc011llc.1_Missense_Mutation_p.A105T	p.A193T	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		3	734	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		193					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.577G>A	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458299	0.26248	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.62	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	L	0.36672	1.1	0.58432	D	0.999997	D	0.58620	0.983	B	0.41917	0.37	T	0.66019	-0.6027	9	.	.	.	.	14.3498	0.66694	0.0:0.0:1.0:0.0	.	193	Q9HAB3	RFT3_HUMAN	T	193;193;193;193;193;105	ENSP00000435820:A193T;ENSP00000434728:A193T;ENSP00000385961:A193T;ENSP00000436768:A193T;ENSP00000333638:A193T;ENSP00000440400:A105T	.	A	+	1	0	GPR172A	145554537	0.999000	0.42202	0.850000	0.33497	0.234000	0.25298	3.833000	0.55790	1.966000	0.57179	0.462000	0.41574	GCC		0.662	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		33	64	0	0	0	0	33	64				
CPSF1	29894	broad.mit.edu	37	8	145626157	145626157	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr8:145626157C>T	ENST00000349769.3	-	7	688	c.594G>A	c.(592-594)gaG>gaA	p.E198E	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	198					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGAGCAGCTTCTCGTCTAGGG	0.637																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NA																	0				skin(1)	1						c.(592-594)GAG>GAA		cleavage and polyadenylation specific factor 1,							111.0	86.0	94.0					8																	145626157		2203	4300	6503	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145626157C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.594G>A	8.37:g.145626157C>T						CPSF1_uc003zck.1_Silent_p.E120E|CPSF1_uc011lle.1_Silent_p.E198E|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Silent_p.E198E	p.E198E	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		7	669	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		198					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.594G>A	CCDS34966.1																																																																																				0.637	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		9	44	0	0	0	0	9	44				
SMARCA2	6595	broad.mit.edu	37	9	2123782	2123782	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:2123782G>A	ENST00000382203.1	+	27	4035	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K	SMARCA2_ENST00000349721.2_Missense_Mutation_p.E1276K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E1276K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E1276K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1276					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCGTTTAATGGAGGAGGATGA	0.547																																						uc003zhc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3826-3828)GAG>AAG		SWI/SNF-related matrix-associated							47.0	49.0	48.0					9																	2123782		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2123782G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3826G>A	9.37:g.2123782G>A	ENSP00000371638:p.Glu1276Lys					SMARCA2_uc003zhd.2_Missense_Mutation_p.E1276K|SMARCA2_uc010mha.2_Missense_Mutation_p.E1209K	p.E1276K	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	27	3925	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1276					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3826G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341449	0.61073	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94079	0.8102	M	0.84219	2.685	0.80722	D	1	P;D;D	0.67145	0.604;0.996;0.993	B;D;D	0.76071	0.434;0.987;0.971	D	0.92787	0.6245	10	0.40728	T	0.16	-36.0857	20.1731	0.98165	0.0:0.0:1.0:0.0	.	877;1276;1276	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	K	1276	ENSP00000265773:E1276K;ENSP00000349788:E1276K;ENSP00000371638:E1276K;ENSP00000371629:E1276K	ENSP00000265773:E1276K	E	+	1	0	SMARCA2	2113782	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	9.832000	0.99423	2.768000	0.95171	0.655000	0.94253	GAG		0.547	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		7	36	0	0	0	0	7	36				
TMEM215	401498	broad.mit.edu	37	9	32784253	32784253	+	Silent	SNP	T	T	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:32784253T>A	ENST00000342743.5	+	2	437	c.72T>A	c.(70-72)ggT>ggA	p.G24G		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	24						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TCGTCTTTGGTTTCATGTTCA	0.582																																						uc003zri.3		NA																	0					0						c.(70-72)GGT>GGA		transmembrane protein 215							113.0	104.0	107.0					9																	32784253		2203	4300	6503	SO:0001819	synonymous_variant	401498					integral to membrane		g.chr9:32784253T>A		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.72T>A	9.37:g.32784253T>A							p.G24G	NM_212558	NP_997723	Q68D42	TM215_HUMAN			2	437	+			24			Helical; (Potential).		Q6ZUU2	Silent	SNP	ENST00000342743.5	37	c.72T>A	CCDS6530.1																																																																																				0.582	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		25	16	0	0	0	0	25	16				
ZBTB5	9925	broad.mit.edu	37	9	37441584	37441584	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:37441584T>C	ENST00000307750.4	-	2	1153	c.965A>G	c.(964-966)aAg>aGg	p.K322R		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	322					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)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CATGTGCTCCTTCTCACCAAG	0.512																																						uc003zzx.2		NA																	0				ovary(2)	2						c.(964-966)AAG>AGG		zinc finger and BTB domain containing 5							111.0	105.0	107.0					9																	37441584		2203	4300	6503	SO:0001583	missense	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37441584T>C	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.965A>G	9.37:g.37441584T>C	ENSP00000307604:p.Lys322Arg						p.K322R	NM_014872	NP_055687	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	1165	-			322						Missense_Mutation	SNP	ENST00000307750.4	37	c.965A>G	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814842	0.32053	.	.	ENSG00000168795	ENST00000307750	T	0.09538	2.97	5.49	5.49	0.81192	.	0.253994	0.38663	N	0.001617	T	0.08758	0.0217	N	0.24115	0.695	0.42281	D	0.992091	B	0.15141	0.012	B	0.14023	0.01	T	0.28396	-1.0045	10	0.19147	T	0.46	.	15.7623	0.78096	0.0:0.0:0.0:1.0	.	322	O15062	ZBTB5_HUMAN	R	322	ENSP00000307604:K322R	ENSP00000307604:K322R	K	-	2	0	ZBTB5	37431584	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.910000	0.69931	2.311000	0.77944	0.533000	0.62120	AAG		0.512	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		3	88	0	0	0	0	3	88				
SLC25A51	92014	broad.mit.edu	37	9	37888027	37888027	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:37888027C>T	ENST00000377716.2	-	3	1264	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	SLC25A51_ENST00000242275.6_Missense_Mutation_p.R174Q|SLC25A51_ENST00000380590.3_Missense_Mutation_p.R174Q|SLC25A51_ENST00000496760.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	174					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CACCAAGCCTCGATAATACTC	0.463																																						uc004aau.2		NA																	0				ovary(2)|breast(1)	3						c.(520-522)CGA>CAA		mitochondrial carrier triple repeat 1							112.0	108.0	110.0					9																	37888027		2203	4298	6501	SO:0001583	missense	92014				transport	integral to membrane|mitochondrial inner membrane		g.chr9:37888027C>T	BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"""Solute carriers"""	23323	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 1"""	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.521G>A	9.37:g.37888027C>T	ENSP00000366945:p.Arg174Gln					MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.R174Q	p.R174Q	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN		GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)	3	1265	-			174			Solcar 2.			Missense_Mutation	SNP	ENST00000377716.2	37	c.521G>A	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.400567	0.83120	.	.	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	D;D;D	0.81659	-1.52;-1.52;-1.52	4.64	3.75	0.43078	Mitochondrial carrier domain (2);	0.250863	0.32687	N	0.005774	D	0.85053	0.5609	M	0.74389	2.26	0.58432	D	0.999995	D	0.57899	0.981	P	0.55615	0.78	D	0.85529	0.1208	10	0.59425	D	0.04	.	10.8142	0.46564	0.0:0.9056:0.0:0.0944	.	174	Q9H1U9	MCAR1_HUMAN	Q	174	ENSP00000369964:R174Q;ENSP00000366945:R174Q;ENSP00000242275:R174Q	ENSP00000242275:R174Q	R	-	2	0	MCART1	37878027	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.360000	0.79487	1.097000	0.41459	-0.237000	0.12165	CGA		0.463	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412		20	61	0	0	0	0	20	61				
FAM189A2	9413	broad.mit.edu	37	9	72006633	72006633	+	Silent	SNP	G	G	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:72006633G>C	ENST00000257515.8	+	11	1686	c.1266G>C	c.(1264-1266)ggG>ggC	p.G422G	FAM189A2_ENST00000303068.7_Silent_p.G257G|FAM189A2_ENST00000377216.3_Silent_p.G209G|FAM189A2_ENST00000455972.1_Silent_p.G422G	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	422						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CACCAGCGGGGAGGCCCCGAG	0.672																																						uc010mon.1		NA																	0					0						c.(1264-1266)GGG>GGC		chromosome 9 open reading frame 61 precursor							25.0	29.0	27.0					9																	72006633		2203	4299	6502	SO:0001819	synonymous_variant	9413					integral to membrane		g.chr9:72006633G>C	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.1266G>C	9.37:g.72006633G>C						FAM189A2_uc004ahg.2_Silent_p.G422G|FAM189A2_uc010moo.1_Missense_Mutation_p.E160Q	p.G422G	NM_001127608	NP_001121080	Q15884	F1892_HUMAN			11	1370	+			422					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Silent	SNP	ENST00000257515.8	37	c.1266G>C	CCDS6629.1																																																																																				0.672	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		3	25	0	0	0	0	3	25				
SPATA31D1	389763	broad.mit.edu	37	9	84603737	84603737	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:84603737G>A	ENST00000344803.2	+	1	51	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	2					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCAGACCATGGAGAATATCCT	0.502																																						uc004amn.2		NA																	0					0						c.(4-6)GAG>AAG		hypothetical protein LOC389763							111.0	99.0	103.0					9																	84603737		1862	4102	5964	SO:0001583	missense	389763					integral to membrane		g.chr9:84603737G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4G>A	9.37:g.84603737G>A	ENSP00000341988:p.Glu2Lys						p.E2K	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			1	51	+			2						Missense_Mutation	SNP	ENST00000344803.2	37	c.4G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818354	0.32145	.	.	ENSG00000214929	ENST00000344803	T	0.23348	1.91	2.89	1.89	0.25635	.	2.274640	0.02223	N	0.064167	T	0.24890	0.0604	L	0.29908	0.895	0.09310	N	1	P	0.46512	0.879	P	0.45538	0.484	T	0.16630	-1.0396	10	0.40728	T	0.16	-0.3156	6.3114	0.21166	0.0:0.0:0.5619:0.4381	.	2	Q6ZQQ2	F75D1_HUMAN	K	2	ENSP00000341988:E2K	ENSP00000341988:E2K	E	+	1	0	FAM75D1	83793557	0.342000	0.24809	0.002000	0.10522	0.020000	0.10135	1.094000	0.30951	0.679000	0.31345	0.580000	0.79431	GAG		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		28	34	0	0	0	0	28	34				
DAPK1	1612	broad.mit.edu	37	9	90264868	90264868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:90264868G>A	ENST00000408954.3	+	16	1796	c.1461G>A	c.(1459-1461)tgG>tgA	p.W487*	DAPK1_ENST00000469640.2_Nonsense_Mutation_p.W487*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.W487*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.W487*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.W487*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	487					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTGCTGCTTGGCACGGCTATT	0.522									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NA																	0				ovary(1)|breast(1)	2						c.(1459-1461)TGG>TGA		death-associated protein kinase 1							63.0	68.0	66.0					9																	90264868		1956	4138	6094	SO:0001587	stop_gained	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90264868G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1461G>A	9.37:g.90264868G>A	ENSP00000386135:p.Trp487*					DAPK1_uc004ape.2_Nonsense_Mutation_p.W487*|DAPK1_uc004apd.2_Nonsense_Mutation_p.W487*|DAPK1_uc011ltg.1_Nonsense_Mutation_p.W487*|DAPK1_uc011lth.1_Nonsense_Mutation_p.W224*|DAPK1_uc004apf.1_Nonsense_Mutation_p.W41*	p.W487*	NM_004938	NP_004929	P53355	DAPK1_HUMAN			16	1599	+			487			ANK 4.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	c.1461G>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	42	9.175974	0.99091	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.63	4.73	0.59995	.	0.145461	0.32640	N	0.005832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	16.6109	0.84882	0.0:0.1304:0.8696:0.0	.	.	.	.	X	487	.	ENSP00000350785:W487X	W	+	3	0	DAPK1	89454688	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.729000	0.98795	1.513000	0.48852	0.655000	0.94253	TGG		0.522	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		18	42	0	0	0	0	18	42				
PAPPA	5069	broad.mit.edu	37	9	118974201	118974201	+	Missense_Mutation	SNP	G	G	T	rs144109251		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:118974201G>T	ENST00000328252.3	+	4	2277	c.1908G>T	c.(1906-1908)atG>atT	p.M636I	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	636					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACAACTTCATGAGCTATGCAG	0.512																																						uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(1906-1908)ATG>ATT		pregnancy-associated plasma protein A							174.0	174.0	174.0					9																	118974201		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118974201G>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1908G>T	9.37:g.118974201G>T	ENSP00000330658:p.Met636Ile					PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron	p.M636I	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			4	2289	+			636					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1908G>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048310	0.93740	.	.	ENSG00000182752	ENST00000328252	T	0.24151	1.87	5.73	5.73	0.89815	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	H	0.97659	4.05	0.80722	D	1	D	0.54047	0.964	P	0.60886	0.88	T	0.78021	-0.2367	10	0.72032	D	0.01	-26.0982	20.263	0.98456	0.0:0.0:1.0:0.0	.	636	Q13219	PAPP1_HUMAN	I	636	ENSP00000330658:M636I	ENSP00000330658:M636I	M	+	3	0	PAPPA	118014022	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.772000	0.98984	2.868000	0.98415	0.555000	0.69702	ATG		0.512	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		75	115	1	0	5.45e-36	9.54e-36	75	115				
OR1L6	392390	broad.mit.edu	37	9	125512877	125512877	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:125512877C>G	ENST00000373684.1	+	1	859	c.859C>G	c.(859-861)Ctt>Gtt	p.L287V	OR1L6_ENST00000304720.2_Missense_Mutation_p.L251V			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TGCAGTAGCCCTTTTCTATGG	0.517																																						uc011lzc.1		NA																	0					0						c.(859-861)CTT>GTT		olfactory receptor, family 1, subfamily L,							117.0	98.0	105.0					9																	125512877		2203	4300	6503	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512877C>G		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.859C>G	9.37:g.125512877C>G	ENSP00000362788:p.Leu287Val						p.L287V	NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN			1	859	+			287			Helical; Name=6; (Potential).		Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.859C>G		.	.	.	.	.	.	.	.	.	.	C	6.136	0.393320	0.11638	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.00265	8.39;8.39	4.46	1.43	0.22495	GPCR, rhodopsin-like superfamily (1);	0.158141	0.29300	N	0.012560	T	0.00300	0.0009	M	0.71206	2.165	0.09310	N	1	D	0.56746	0.977	P	0.51415	0.669	T	0.46512	-0.9186	10	0.87932	D	0	-10.1286	7.9505	0.30012	0.0:0.6221:0.0:0.3779	.	287	Q8NGR2	OR1L6_HUMAN	V	287;251	ENSP00000362788:L287V;ENSP00000304235:L251V	ENSP00000304235:L251V	L	+	1	0	OR1L6	124552698	0.000000	0.05858	0.032000	0.17829	0.023000	0.10783	-2.500000	0.00967	0.175000	0.19841	-0.136000	0.14681	CTT		0.517	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				20	57	0	0	0	0	20	57				
LAMC3	10319	broad.mit.edu	37	9	133901891	133901891	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:133901891C>T	ENST00000361069.4	+	2	726	c.593C>T	c.(592-594)tCc>tTc	p.S198F	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	198	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCGACATCTCCCCGCTGAGT	0.701																																						uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(592-594)TCC>TTC		laminin, gamma 3 precursor							21.0	22.0	22.0					9																	133901891		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133901891C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.593C>T	9.37:g.133901891C>T	ENSP00000354360:p.Ser198Phe						p.S198F	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	2	691	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	198			Laminin N-terminal.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.593C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808019	0.70797	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.76968	-1.06	5.83	5.83	0.93111	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	L	0.56199	1.76	0.80722	D	1	D	0.57257	0.979	P	0.60012	0.867	T	0.78932	-0.2009	10	0.21540	T	0.41	.	19.1066	0.93299	0.0:1.0:0.0:0.0	.	198	Q9Y6N6	LAMC3_HUMAN	F	198	ENSP00000354360:S198F	ENSP00000325873:S198F	S	+	2	0	LAMC3	132891712	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.689000	0.84165	2.769000	0.95229	0.655000	0.94253	TCC		0.701	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		9	22	0	0	0	0	9	22				
EHMT1	79813	broad.mit.edu	37	9	140728957	140728957	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr9:140728957G>A	ENST00000460843.1	+	26	3724	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1233	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCGCCTGATCGAGGCCGGCGA	0.697																																						uc011mfc.1		NA																	0				breast(2)|pancreas(1)	3						c.(3697-3699)GAG>AAG		euchromatic histone-lysine N-methyltransferase 1							41.0	40.0	40.0					9																	140728957		2201	4298	6499	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140728957G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3697G>A	9.37:g.140728957G>A	ENSP00000417980:p.Glu1233Lys					EHMT1_uc004coe.2_Missense_Mutation_p.E138K	p.E1233K	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	26	3734	+	all_cancers(76;0.164)		1233			SET.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.3697G>A	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	4.031	0.003298	0.07866	.	.	ENSG00000181090	ENST00000460843	T	0.80304	-1.36	5.24	2.29	0.28610	SET domain (3);	0.396912	0.30185	N	0.010210	T	0.66587	0.2804	N	0.12527	0.23	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.44667	-0.9313	10	0.25106	T	0.35	.	18.8277	0.92124	0.0:0.6694:0.3306:0.0	.	1233	Q9H9B1	EHMT1_HUMAN	K	1233	ENSP00000417980:E1233K	ENSP00000417980:E1233K	E	+	1	0	EHMT1	139848778	0.000000	0.05858	0.006000	0.13384	0.088000	0.18126	0.418000	0.21230	0.264000	0.21851	-0.305000	0.09177	GAG		0.697	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		6	32	0	0	0	0	6	32				
PPEF1	5475	broad.mit.edu	37	X	18836239	18836239	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:18836239C>A	ENST00000361511.4	+	16	1971	c.1477C>A	c.(1477-1479)Caa>Aaa	p.Q493K	PPEF1_ENST00000544635.1_Missense_Mutation_p.Q428K|PPEF1_ENST00000349874.5_Missense_Mutation_p.Q431K|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.Q440K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	493	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCGTGCTTTCCAACTTCAAGA	0.353																																						uc004cyq.2		NA																	0					0						c.(1477-1479)CAA>AAA		protein phosphatase with EF hand calcium-binding							114.0	99.0	104.0					X																	18836239		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18836239C>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1477C>A	X.37:g.18836239C>A	ENSP00000354871:p.Gln493Lys					PPEF1_uc004cyp.2_Missense_Mutation_p.Q465K|PPEF1_uc004cyr.2_Missense_Mutation_p.Q431K|PPEF1_uc004cys.2_Missense_Mutation_p.Q493K|PPEF1_uc011mja.1_Missense_Mutation_p.Q428K|PPEF1_uc011mjb.1_Missense_Mutation_p.Q437K	p.Q493K	NM_006240	NP_006231	O14829	PPE1_HUMAN			16	1958	+	Hepatocellular(33;0.183)		493			EF-hand 1.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1477C>A	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.688646	0.00100	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.23	2.42	0.29668	EF-hand-like domain (1);	1.093460	0.06971	N	0.818128	T	0.22126	0.0533	N	0.16790	0.44	0.09310	N	1	B;B;B	0.17268	0.021;0.013;0.008	B;B;B	0.14578	0.009;0.007;0.011	T	0.25882	-1.0119	10	0.02654	T	1	-1.8615	4.9781	0.14151	0.1288:0.336:0.4468:0.0883	.	431;493;465	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	K	493;440;431;428	ENSP00000354871:Q493K;ENSP00000352806:Q440K;ENSP00000341892:Q431K;ENSP00000441289:Q428K	ENSP00000341892:Q431K	Q	+	1	0	PPEF1	18746160	0.358000	0.24947	0.002000	0.10522	0.028000	0.11728	0.114000	0.15520	0.138000	0.18790	0.422000	0.28245	CAA		0.353	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		31	15	1	0	5.6e-13	8.8e-13	31	15				
FTHL17	53940	broad.mit.edu	37	X	31089993	31089993	+	Silent	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:31089993C>G	ENST00000359202.3	-	1	177	c.78G>C	c.(76-78)acG>acC	p.T26T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	26	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.T26T(4)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGAGCTCCAGCGTGATGTGGC	0.627																																						uc004dcl.1		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(76-78)ACG>ACC		ferritin, heavy polypeptide-like 17							74.0	64.0	68.0					X																	31089993		2202	4296	6498	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089993C>G	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.78G>C	X.37:g.31089993C>G							p.T26T	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	181	-			26			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.78G>C	CCDS14227.1																																																																																				0.627	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		23	18	0	0	0	0	23	18				
DMD	1756	broad.mit.edu	37	X	32536238	32536238	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:32536238C>G	ENST00000357033.4	-	18	2385	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H	DMD_ENST00000288447.4_Missense_Mutation_p.D719H|DMD_ENST00000378677.2_Missense_Mutation_p.D723H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	727					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGTTATATCAACATCCAAC	0.333																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(2179-2181)GAT>CAT		dystrophin Dp427m isoform							53.0	48.0	49.0					X																	32536238		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32536238C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2179G>C	X.37:g.32536238C>G	ENSP00000354923:p.Asp727His					DMD_uc004dcz.2_Missense_Mutation_p.D604H|DMD_uc004dcy.1_Missense_Mutation_p.D723H|DMD_uc004ddb.1_Missense_Mutation_p.D719H|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.D719H	p.D727H	NM_004006	NP_003997	P11532	DMD_HUMAN			18	2423	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	727			Spectrin 4.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2179G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861304	0.71949	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.73681	0.51;0.51;-0.77	5.14	5.14	0.70334	.	0.000000	0.32028	U	0.006691	D	0.84942	0.5584	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.998	D;P;D;D	0.87578	0.998;0.882;0.995;0.928	D	0.85217	0.1024	10	0.45353	T	0.12	.	17.3034	0.87188	0.0:1.0:0.0:0.0	.	719;719;727;723	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	H	719;723;727;727;604;719	ENSP00000367948:D723H;ENSP00000354923:D727H;ENSP00000288447:D719H	ENSP00000288447:D719H	D	-	1	0	DMD	32446159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.512000	0.67030	2.110000	0.64415	0.583000	0.79449	GAT		0.333	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		11	5	0	0	0	0	11	5				
KCND1	3750	broad.mit.edu	37	X	48822582	48822582	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:48822582C>A	ENST00000218176.3	-	5	2895	c.1598G>T	c.(1597-1599)tGc>tTc	p.C533F	KCND1_ENST00000376477.1_Missense_Mutation_p.C156F	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	533					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CCTGCGAGGGCAGCAAGAAGA	0.682																																						uc004dlx.1		NA																	0				ovary(2)|lung(1)	3						c.(1597-1599)TGC>TTC		potassium voltage-gated channel, Shal-related							25.0	28.0	27.0					X																	48822582		2200	4300	6500	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48822582C>A	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1598G>T	X.37:g.48822582C>A	ENSP00000218176:p.Cys533Phe					KCND1_uc004dlw.1_Missense_Mutation_p.C156F	p.C533F	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			5	3171	-			533			Cytoplasmic (Potential).		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.1598G>T	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541315	0.65085	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.87809	-2.3;-2.3	5.4	5.4	0.78164	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	M	0.79123	2.44	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	D	0.93915	0.7200	10	0.72032	D	0.01	.	16.9484	0.86236	0.0:1.0:0.0:0.0	.	533	Q9NSA2	KCND1_HUMAN	F	156;533	ENSP00000365660:C156F;ENSP00000218176:C533F	ENSP00000218176:C533F	C	-	2	0	KCND1	48707526	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	6.608000	0.74168	2.265000	0.75225	0.523000	0.50628	TGC		0.682	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		24	9	1	0	4.72e-08	6.85e-08	24	9				
CCNB3	85417	broad.mit.edu	37	X	50052941	50052941	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:50052941A>T	ENST00000376042.1	+	6	2070	c.1772A>T	c.(1771-1773)aAg>aTg	p.K591M	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.K591M|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	591					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.K591T(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTACAGGAAAAGAAAATTACT	0.408																																						uc004dox.3		NA																	2	Substitution - Missense(2)	p.K591T(2)	pancreas(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(1771-1773)AAG>ATG		cyclin B3 isoform 3							35.0	31.0	32.0					X																	50052941		2203	4298	6501	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50052941A>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1772A>T	X.37:g.50052941A>T	ENSP00000365210:p.Lys591Met					CCNB3_uc004doy.2_Missense_Mutation_p.K591M|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.K591M	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	2070	+	Ovarian(276;0.236)		591					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.1772A>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.385251	0.42308	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.37915	1.17;1.17	3.66	2.48	0.30137	.	968.947000	0.00481	N	0.000131	T	0.45418	0.1341	L	0.55481	1.735	0.09310	N	1	D	0.64830	0.994	P	0.51415	0.669	T	0.10894	-1.0610	9	.	.	.	.	5.0472	0.14490	0.8619:0.0:0.1381:0.0	.	591	Q8WWL7	CCNB3_HUMAN	M	591	ENSP00000365210:K591M;ENSP00000276014:K591M	.	K	+	2	0	CCNB3	50069681	0.002000	0.14202	0.002000	0.10522	0.080000	0.17528	0.994000	0.29693	0.595000	0.29777	0.430000	0.28490	AAG		0.408	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			13	9	0	0	0	0	13	9				
KLHL4	56062	broad.mit.edu	37	X	86877360	86877360	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:86877360G>T	ENST00000373119.4	+	5	1219	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	KLHL4_ENST00000373114.4_Missense_Mutation_p.Q358H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	358						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATGATGTGCAGAATAGGCAAG	0.408																																						uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1072-1074)CAG>CAT		kelch-like 4 isoform 1							164.0	135.0	145.0					X																	86877360		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86877360G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1074G>T	X.37:g.86877360G>T	ENSP00000362211:p.Gln358His					KLHL4_uc004efa.2_Missense_Mutation_p.Q358H	p.Q358H	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			5	1256	+			358					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1074G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505572	0.26949	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.69435	-0.4;-0.4	5.38	1.6	0.23607	BTB/Kelch-associated (2);	0.127919	0.53938	D	0.000051	T	0.54464	0.1860	L	0.42632	1.34	0.48511	D	0.999668	B;B	0.13145	0.005;0.007	B;B	0.18561	0.022;0.019	T	0.46275	-0.9203	10	0.51188	T	0.08	.	8.2861	0.31930	0.4409:0.0:0.5591:0.0	.	358;358	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	H	358	ENSP00000362211:Q358H;ENSP00000362206:Q358H	ENSP00000362206:Q358H	Q	+	3	2	KLHL4	86764016	0.741000	0.28217	0.951000	0.38953	0.569000	0.35902	0.994000	0.29693	0.113000	0.18004	0.513000	0.50165	CAG		0.408	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			42	14	1	0	7.05e-20	1.18e-19	42	14				
GPRASP2	114928	broad.mit.edu	37	X	101969964	101969964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:101969964C>T	ENST00000535209.1	+	4	998	c.167C>T	c.(166-168)tCt>tTt	p.S56F	GPRASP2_ENST00000543253.1_Missense_Mutation_p.S56F|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S56F			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	56						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAGACCAAGTCTGTGCCTGCG	0.567																																						uc004ejk.2		NA																	0				ovary(1)	1						c.(166-168)TCT>TTT		G protein-coupled receptor associated sorting							106.0	96.0	99.0					X																	101969964		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101969964C>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.167C>T	X.37:g.101969964C>T	ENSP00000437394:p.Ser56Phe					GPRASP2_uc004ejl.2_Missense_Mutation_p.S56F|GPRASP2_uc004ejm.2_Missense_Mutation_p.S56F|GPRASP2_uc011mrp.1_5'Flank	p.S56F	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	1501	+			56					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.167C>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	4.789	0.146744	0.09134	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08634	3.07;3.07;3.07	4.6	1.86	0.25419	.	0.800555	0.10613	N	0.654215	T	0.07098	0.0180	N	0.24115	0.695	0.09310	N	1	B	0.34015	0.435	B	0.36289	0.221	T	0.38735	-0.9647	10	0.62326	D	0.03	.	8.2213	0.31543	0.0:0.7111:0.0:0.2889	.	56	Q96D09	GASP2_HUMAN	F	56	ENSP00000437872:S56F;ENSP00000437394:S56F;ENSP00000339057:S56F	ENSP00000339057:S56F	S	+	2	0	GPRASP2	101856620	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.100000	0.15231	0.125000	0.18397	-0.297000	0.09499	TCT		0.567	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		55	16	0	0	0	0	55	16				
GLRA4	441509	broad.mit.edu	37	X	102979899	102979899	+	Silent	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:102979899G>T	ENST00000372617.4	-	2	549	c.129C>A	c.(127-129)tcC>tcA	p.S43S	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	43						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AATCAGAGGGGGACATGGGCT	0.468																																						uc011mse.1		NA																	0					0						c.(127-129)TCC>TCA		glycine receptor, alpha 4 precursor							48.0	47.0	48.0					X																	102979899		1911	4118	6029	SO:0001819	synonymous_variant	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102979899G>T	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.129C>A	X.37:g.102979899G>T						GLRA4_uc010nou.2_Silent_p.S43S	p.S43S	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			2	550	-			43			Extracellular (Potential).			Silent	SNP	ENST00000372617.4	37	c.129C>A	CCDS43980.2																																																																																				0.468	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		7	3	1	0	0.00307968	0.00404627	7	3				
COL4A5	1287	broad.mit.edu	37	X	107844632	107844632	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:107844632G>T	ENST00000361603.2	+	26	2202	c.1958G>T	c.(1957-1959)gGg>gTg	p.G653V	COL4A5_ENST00000328300.6_Missense_Mutation_p.G653V	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	653	Triple-helical region.		G -> R (in APSX; juvenile type). {ECO:0000269|PubMed:7599631}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTCCTAAAGGGGATCCAGGT	0.408									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1957-1959)GGG>GTG		type IV collagen alpha 5 isoform 2 precursor							40.0	35.0	36.0					X																	107844632		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107844632G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1958G>T	X.37:g.107844632G>T	ENSP00000354505:p.Gly653Val					COL4A5_uc011mso.1_Missense_Mutation_p.G653V|COL4A5_uc004eob.1_Missense_Mutation_p.G261V	p.G653V	NM_033380	NP_203699	P29400	CO4A5_HUMAN			26	2160	+			653		G -> R (in APSX; juvenile type).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1958G>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586932	0.66105	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99637	-6.29;-6.29	5.6	5.6	0.85130	.	0.057762	0.64402	N	0.000002	D	0.99822	0.9921	H	0.97896	4.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96682	0.9504	10	0.87932	D	0	.	18.6315	0.91361	0.0:0.0:1.0:0.0	.	653;261;653	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	V	653	ENSP00000331902:G653V;ENSP00000354505:G653V	ENSP00000331902:G653V	G	+	2	0	COL4A5	107731288	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.690000	0.91272	2.344000	0.79699	0.544000	0.68410	GGG		0.408	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			11	2	1	0	6.4e-05	8.76e-05	11	2				
RGAG1	57529	broad.mit.edu	37	X	109695339	109695339	+	Silent	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:109695339C>T	ENST00000465301.2	+	3	1740	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	RGAG1_ENST00000540313.1_Silent_p.S498S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	498										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAAAGATGTCCACGCCACTGA	0.507																																						uc004eor.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1492-1494)TCC>TCT		retrotransposon gag domain containing 1							145.0	134.0	138.0					X																	109695339		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109695339C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1494C>T	X.37:g.109695339C>T						RGAG1_uc011msr.1_Silent_p.S498S	p.S498S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1740	+			498					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.1494C>T	CCDS14552.1																																																																																				0.507	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		96	33	0	0	0	0	96	33				
DOCK11	139818	broad.mit.edu	37	X	117700005	117700005	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:117700005T>C	ENST00000276202.7	+	8	794	c.731T>C	c.(730-732)aTg>aCg	p.M244T	DOCK11_ENST00000276204.6_Missense_Mutation_p.M244T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	244	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GAACTCAAGATGTTAGATAAA	0.373																																						uc004eqp.2		NA																	0				ovary(3)	3						c.(730-732)ATG>ACG		dedicator of cytokinesis 11							134.0	132.0	133.0					X																	117700005		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117700005T>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.731T>C	X.37:g.117700005T>C	ENSP00000276202:p.Met244Thr					DOCK11_uc004eqq.2_Missense_Mutation_p.M10T	p.M244T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			8	794	+			244			PH.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.731T>C	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.186264	0.57909	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.73152	-0.72;-0.72	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.041883	0.85682	D	0.000000	T	0.68732	0.3033	L	0.32530	0.975	0.52501	D	0.999954	B;B	0.21452	0.014;0.056	B;B	0.42319	0.165;0.383	T	0.68443	-0.5407	10	0.56958	D	0.05	-11.0256	9.8259	0.40912	0.0:0.0832:0.0:0.9168	.	244;244	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	244	ENSP00000276204:M244T;ENSP00000276202:M244T	ENSP00000276202:M244T	M	+	2	0	DOCK11	117584033	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.862000	0.62976	1.837000	0.53436	0.345000	0.21793	ATG		0.373	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		88	20	0	0	0	0	88	20				
RHOXF2B	727940	broad.mit.edu	37	X	119211023	119211023	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:119211023C>T	ENST00000371402.2	-	2	499	c.310G>A	c.(310-312)Gtt>Att	p.V104I	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	104					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						CTGTCCTCAACGTTGCCATCG	0.652																																						uc004esj.3		NA																	0					0						c.(310-312)GTT>ATT		Rhox homeobox family, member 2							18.0	22.0	20.0					X																	119211023		1971	3829	5800	SO:0001583	missense	727940					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119211023C>T		CCDS43985.1	Xq24	2011-06-20			ENSG00000203989	ENSG00000203989		"""Homeoboxes / PRD class"""	33519	protein-coding gene	gene with protein product							Standard	NM_001099685		Approved		uc004esj.4	P0C7M4	OTTHUMG00000022288	ENST00000371402.2:c.310G>A	X.37:g.119211023C>T	ENSP00000360455:p.Val104Ile					uc004esi.1_Intron	p.V104I	NM_032498	NP_115887	P0C7M4	RHF2B_HUMAN			2	500	-			104						Missense_Mutation	SNP	ENST00000371402.2	37	c.310G>A	CCDS43985.1	.	.	.	.	.	.	.	.	.	.	c	4.589	0.109398	0.08780	.	.	ENSG00000203989	ENST00000371402	D	0.91407	-2.84	1.62	-0.483	0.12075	.	.	.	.	.	T	0.73783	0.3631	N	0.08118	0	0.09310	N	1	B	0.28439	0.212	B	0.15484	0.013	T	0.62172	-0.6910	9	0.36615	T	0.2	.	1.7364	0.02943	0.3314:0.4216:0.0:0.247	.	104	P0C7M4	RHF2B_HUMAN	I	104	ENSP00000360455:V104I	ENSP00000360455:V104I	V	-	1	0	RHOXF2B	119095051	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.782000	0.00772	-0.237000	0.09739	-0.500000	0.04577	GTT		0.652	RHOXF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058081.2	NM_001099685		11	36	0	0	0	0	11	36				
THOC2	57187	broad.mit.edu	37	X	122755304	122755304	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:122755304C>T	ENST00000245838.8	-	31	3951	c.3920G>A	c.(3919-3921)cGg>cAg	p.R1307Q	THOC2_ENST00000491737.1_Missense_Mutation_p.R1192Q|THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000355725.4_Missense_Mutation_p.R1307Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1307	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTTATTTGGCCGCTCTTCCTT	0.393																																						uc004etu.2		NA																	0				ovary(3)	3						c.(3919-3921)CGG>CAG		THO complex 2							224.0	198.0	206.0					X																	122755304		1836	4080	5916	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122755304C>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3920G>A	X.37:g.122755304C>T	ENSP00000245838:p.Arg1307Gln					THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.R128Q	p.R1307Q	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			31	3952	-			1307			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3920G>A	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.949586|3.949586	0.73787|0.73787	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000441692|ENST00000245838;ENST00000355725;ENST00000491737	.|T;T;T	.|0.22336	.|1.96;1.96;1.96	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	T|T	0.16428|0.16428	0.0395|0.0395	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.08055	.|0.003	T|T	0.06954|0.06954	-1.0798|-1.0798	5|9	.|.	.|.	.|.	-2.3641|-2.3641	18.3726|18.3726	0.90412|0.90412	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1307	.|Q8NI27	.|THOC2_HUMAN	S|Q	75|1307;1307;1192	.|ENSP00000245838:R1307Q;ENSP00000347959:R1307Q;ENSP00000419795:R1192Q	.|.	G|R	-|-	1|2	0|0	THOC2|THOC2	122582985|122582985	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.978000|0.978000	0.69477|0.69477	7.393000|7.393000	0.79851|0.79851	2.365000|2.365000	0.80145|0.80145	0.600000|0.600000	0.82982|0.82982	GGC|CGG		0.393	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			7	91	0	0	0	0	7	91				
RBMX2	51634	broad.mit.edu	37	X	129546423	129546423	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:129546423A>T	ENST00000305536.6	+	6	634	c.570A>T	c.(568-570)agA>agT	p.R190S		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	190	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CGTCACCCAGACGCAAGACAG	0.483																																						uc004evt.2		NA																	0				breast(3)|ovary(1)	4						c.(568-570)AGA>AGT		RNA binding motif protein, X-linked 2							55.0	55.0	55.0					X																	129546423		1956	4126	6082	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129546423A>T	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.570A>T	X.37:g.129546423A>T	ENSP00000339090:p.Arg190Ser						p.R190S	NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN			6	634	+			190			Lys-rich.		A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.570A>T	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803735	0.31869	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.12774	2.65	4.31	0.275	0.15659	.	0.235521	0.31358	N	0.007795	T	0.06554	0.0168	L	0.34521	1.04	0.09310	N	0.999997	P	0.39282	0.666	B	0.33339	0.162	T	0.31861	-0.9928	10	0.23302	T	0.38	.	3.2089	0.06676	0.5277:0.2139:0.2583:0.0	.	190	Q9Y388	RBMX2_HUMAN	S	190	ENSP00000339090:R190S	ENSP00000339090:R190S	R	+	3	2	RBMX2	129374104	0.009000	0.17119	0.398000	0.26321	0.062000	0.15995	0.269000	0.18589	-0.111000	0.12001	0.486000	0.48141	AGA		0.483	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		33	5	0	0	0	0	33	5				
GPR112	139378	broad.mit.edu	37	X	135429438	135429438	+	Silent	SNP	C	C	T	rs375612242		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:135429438C>T	ENST00000394143.1	+	6	3864	c.3573C>T	c.(3571-3573)ttC>ttT	p.F1191F	GPR112_ENST00000370652.1_Silent_p.F1191F|GPR112_ENST00000287534.4_Silent_p.F1128F|GPR112_ENST00000394141.1_Silent_p.F986F|GPR112_ENST00000412101.1_Silent_p.F986F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1191					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATATACTTTCAGTGGTGGTG	0.473																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3571-3573)TTC>TTT		G-protein coupled receptor 112							188.0	161.0	170.0					X																	135429438		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429438C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3573C>T	X.37:g.135429438C>T						GPR112_uc010nsb.1_Silent_p.F986F|GPR112_uc010nsc.1_Silent_p.F958F	p.F1191F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3864	+	Acute lymphoblastic leukemia(192;0.000127)		1191			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.3573C>T	CCDS35409.1																																																																																				0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			72	25	0	0	0	0	72	25				
MAGEC2	51438	broad.mit.edu	37	X	141290919	141290919	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:141290919C>G	ENST00000247452.3	-	3	1202	c.855G>C	c.(853-855)gaG>gaC	p.E285D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	285	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCGATACTCCAGGTAAT	0.502										HNSCC(46;0.14)																												uc004fbu.1		NA																	0				breast(2)	2						c.(853-855)GAG>GAC		melanoma antigen family C, 2							87.0	87.0	87.0					X																	141290919		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141290919C>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.855G>C	X.37:g.141290919C>G	ENSP00000354660:p.Glu285Asp	HNSCC(46;0.14)					p.E285D	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	1203	-	Acute lymphoblastic leukemia(192;6.56e-05)		285			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.855G>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	10.41	1.342438	0.24339	.	.	ENSG00000046774	ENST00000247452	T	0.05717	3.4	0.988	0.0626	0.14345	.	0.136357	0.46442	U	0.000286	T	0.17280	0.0415	M	0.84773	2.715	0.09310	N	1	P	0.52577	0.954	P	0.60415	0.874	T	0.05971	-1.0853	10	0.66056	D	0.02	.	3.3703	0.07219	0.0:0.6865:0.0:0.3135	.	285	Q9UBF1	MAGC2_HUMAN	D	285	ENSP00000354660:E285D	ENSP00000354660:E285D	E	-	3	2	MAGEC2	141118585	0.000000	0.05858	0.021000	0.16686	0.007000	0.05969	-1.409000	0.02483	-0.052000	0.13311	-0.739000	0.03532	GAG		0.502	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		63	16	0	0	0	0	63	16				
AFF2	2334	broad.mit.edu	37	X	147743456	147743456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:147743456C>T	ENST00000370460.2	+	3	687	c.208C>T	c.(208-210)Cga>Tga	p.R70*	AFF2_ENST00000370458.1_Nonsense_Mutation_p.R66*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.R66*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.R66*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	70					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTGCCAACCGAGTCCAGAA	0.388																																						uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(208-210)CGA>TGA		fragile X mental retardation 2							111.0	110.0	110.0					X																	147743456		2203	4300	6503	SO:0001587	stop_gained	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743456C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.208C>T	X.37:g.147743456C>T	ENSP00000359489:p.Arg70*					AFF2_uc004fco.2_Nonsense_Mutation_p.R66*|AFF2_uc004fcq.2_Nonsense_Mutation_p.R66*|AFF2_uc004fcr.2_Nonsense_Mutation_p.R66*|AFF2_uc011mxb.1_Nonsense_Mutation_p.R70*|AFF2_uc004fcs.2_Nonsense_Mutation_p.R66*	p.R70*	NM_002025	NP_002016	P51816	AFF2_HUMAN			3	687	+	Acute lymphoblastic leukemia(192;6.56e-05)		70					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Nonsense_Mutation	SNP	ENST00000370460.2	37	c.208C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	41	8.585561	0.98875	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.49	4.62	0.57501	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8442	0.70249	0.1448:0.8552:0.0:0.0	.	.	.	.	X	70;66;66;66	.	ENSP00000345459:R66X	R	+	1	2	AFF2	147551148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.669000	0.61575	1.066000	0.40716	0.600000	0.82982	CGA		0.388	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		67	30	0	0	0	0	67	30				
FUNDC2	65991	broad.mit.edu	37	X	154261754	154261754	+	Silent	SNP	C	C	T	rs147164809		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chrX:154261754C>T	ENST00000369498.3	+	2	464	c.210C>T	c.(208-210)ttC>ttT	p.F70F	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	70						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTAAGCTGTTCGGGCAGGAAT	0.458																																						uc004fmw.2		NA																	0					0						c.(208-210)TTC>TTT		FUN14 domain containing 2		C		0,3835		0,0,1632,571	125.0	110.0	115.0		210	-0.8	0.9	X	dbSNP_134	115	1,6727		0,1,2427,1872	no	coding-synonymous	FUNDC2	NM_023934.3		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		70/190	154261754	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	65991					mitochondrion		g.chrX:154261754C>T	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.210C>T	X.37:g.154261754C>T							p.F70F	NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN			2	360	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		70					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Silent	SNP	ENST00000369498.3	37	c.210C>T	CCDS14763.1																																																																																				0.458	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934		9	55	0	0	0	0	9	55				
PAPPA2	60676	broad.mit.edu	37	1	176758976	176758976	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:176758976delG	ENST00000367662.3	+	18	5911	c.4747delG	c.(4747-4749)ggafs	p.G1583fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1583	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTGGAAGGTGGAATCTGGGA	0.458																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4747-4749)GGAfs		pappalysin 2 isoform 1							92.0	92.0	92.0					1																	176758976		1960	4145	6105	SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176758976delG	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4747delG	1.37:g.176758976delG	ENSP00000356634:p.Gly1583fs					PAPPA2_uc009www.2_RNA	p.G1583fs	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			18	5911	+			1583			Sushi 3.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Del	DEL	ENST00000367662.3	37	c.4747delG	CCDS41438.1																																																																																				0.458	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			18	30	NA	NA	NA	NA	18	30	---	---	---	---
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-	rs193031527		TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	775					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626																																						uc001hpm.1		NA																	1	Deletion - In frame(1)		breast(1)	ovary(1)|breast(1)	2						c.(2323-2325)CAGdel		transmembrane protein 63A																																				SO:0001651	inframe_deletion	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226034840_226034842delCTG		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2323_2325delCAG	1.37:g.226034849_226034851delCTG	ENSP00000355800:p.Gln775del						p.Q775del	NM_014698	NP_055513	O94886	TM63A_HUMAN			24	2573_2575	-	Breast(184;0.197)		775					Q53GI7|Q5TE96|Q8N2U2	In_Frame_Del	DEL	ENST00000366835.3	37	c.2323_2325delCAG	CCDS31042.1																																																																																				0.626	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		7	113	NA	NA	NA	NA	7	113	---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8100668	8100668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr10:8100668delG	ENST00000346208.3	+	3	1097	c.642delG	c.(640-642)tcgfs	p.S214fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Del_p.S214fs			P23771	GATA3_HUMAN	GATA binding protein 3	214					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCTCCTCGTCGACCCACCACC	0.682			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2		NA		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		0				breast(17)|ovary(3)|central_nervous_system(2)	22						c.(640-642)TCGfs		GATA binding protein 3 isoform 2							75.0	67.0	70.0					10																	8100668		2203	4300	6503	SO:0001589	frameshift_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100668delG	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.642delG	10.37:g.8100668delG	ENSP00000341619:p.Ser214fs					GATA3_uc001ijz.2_Frame_Shift_Del_p.S214fs	p.S214fs	NM_002051	NP_002042	P23771	GATA3_HUMAN			3	1199	+			214					Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	ENST00000346208.3	37	c.642delG	CCDS7083.1																																																																																				0.682	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		23	49	NA	NA	NA	NA	23	49	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19256552	19256556	+	Frame_Shift_Del	DEL	TATGT	TATGT	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:19256552_19256556delTATGT	ENST00000527884.1	-	5	733_737	c.501_505delACATA	c.(499-507)ttacatatgfs	p.LHM167fs	E2F8_ENST00000250024.4_Frame_Shift_Del_p.LHM167fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	167					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGCTCACCATATGTAAACTCTCTA	0.444																																						uc001mpm.2		NA																	0				skin(1)	1						c.(499-507)TTACATATGfs		E2F family member 8																																				SO:0001589	frameshift_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19256552_19256556delTATGT		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.501_505delACATA	11.37:g.19256552_19256556delTATGT	ENSP00000434199:p.Leu167fs					E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Frame_Shift_Del_p.L167fs	p.L167fs	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			5	1023_1027	-			167_169			Potential.		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Frame_Shift_Del	DEL	ENST00000527884.1	37	c.501_505delACATA	CCDS7849.1																																																																																				0.444	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		10	25	NA	NA	NA	NA	10	25	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62298255	62298255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr11:62298255delC	ENST00000378024.4	-	5	3908	c.3634delG	c.(3634-3636)gatfs	p.D1212fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1212					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCCACATCCCCTTTGACT	0.478																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3634-3636)GATfs		AHNAK nucleoprotein isoform 1							318.0	329.0	326.0					11																	62298255		2202	4299	6501	SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62298255delC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3634delG	11.37:g.62298255delC	ENSP00000367263:p.Asp1212fs					AHNAK_uc001ntk.1_Intron	p.D1212fs	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	3934	-		Melanoma(852;0.155)	1212					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.3634delG	CCDS31584.1																																																																																				0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		16	456	NA	NA	NA	NA	16	456	---	---	---	---
APOBR	55911	broad.mit.edu	37	16	28506849	28506850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr16:28506849_28506850insA	ENST00000431282.1	+	2	497_498	c.487_488insA	c.(487-489)catfs	p.H163fs	APOBR_ENST00000564831.1_Frame_Shift_Ins_p.H163fs|CLN3_ENST00000567160.1_5'UTR|CLN3_ENST00000569430.1_5'UTR|APOBR_ENST00000328423.5_Frame_Shift_Ins_p.H163fs			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	163	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCAGGAGTCCCATGAGCAGGAA	0.619																																						uc002dqb.1		NA																	0					0						c.(487-489)CATfs		apolipoprotein B48 receptor																																				SO:0001589	frameshift_variant	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28506849_28506850insA	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.488dupA	16.37:g.28506850_28506850dupA	ENSP00000416094:p.His163fs					uc010vct.1_Intron|APOB48R_uc010byg.1_Translation_Start_Site	p.H163fs	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			2	497_498	+			163			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Frame_Shift_Ins	INS	ENST00000431282.1	37	c.487_488insA																																																																																					0.619	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		3	3	NA	NA	NA	NA	3	3	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11687739	11687739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr17:11687739delC	ENST00000262442.4	+	41	8012	c.7944delC	c.(7942-7944)atcfs	p.I2648fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.I2648fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2648	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAAATCCATCCCCCCACTGA	0.532																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(7942-7944)ATCfs		dynein, axonemal, heavy chain 9 isoform 2							174.0	165.0	168.0					17																	11687739		2203	4300	6503	SO:0001589	frameshift_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687739delC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7944delC	17.37:g.11687739delC	ENSP00000262442:p.Ile2648fs					DNAH9_uc010coo.2_Frame_Shift_Del_p.I1942fs	p.I2648fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	8012	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2648			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Del	DEL	ENST00000262442.4	37	c.7944delC	CCDS11160.1																																																																																				0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		64	118	NA	NA	NA	NA	64	118	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19349086	19349086	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr19:19349086delG	ENST00000252575.6	+	11	3374	c.3275delG	c.(3274-3276)tggfs	p.W1092fs	NCAN_ENST00000538881.1_Frame_Shift_Del_p.W543fs	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1092	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GACCGCGGCTGGCATAAGTTC	0.662																																						uc002nlz.2		NA																	0				ovary(4)	4						c.(3274-3276)TGGfs		chondroitin sulfate proteoglycan 3 precursor							54.0	56.0	55.0					19																	19349086		2203	4300	6503	SO:0001589	frameshift_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19349086delG	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3275delG	19.37:g.19349086delG	ENSP00000252575:p.Trp1092fs					NCAN_uc010ecc.1_Frame_Shift_Del_p.W656fs|NCAN_uc002nma.2_5'Flank	p.W1092fs	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		11	3374	+			1092			C-type lectin.		Q9UPK6	Frame_Shift_Del	DEL	ENST00000252575.6	37	c.3275delG	CCDS12397.1																																																																																				0.662	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		42	69	NA	NA	NA	NA	42	69	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228173623	228173623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr2:228173623delG	ENST00000396578.3	+	49	4633	c.4471delG	c.(4471-4473)ggcfs	p.G1491fs	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1491	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.|Required for the anti-angiogenic activity of tumstatin.				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)		AGGAACTCTTGGCAGCTGCCT	0.368																																						uc002vom.1		NA																	0				skin(2)|ovary(1)	3						c.(4471-4473)GGCfs		alpha 3 type IV collagen isoform 1 precursor							107.0	96.0	100.0					2																	228173623		1902	4123	6025	SO:0001589	frameshift_variant	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.chr2:228173623delG		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.4471delG	2.37:g.228173623delG	ENSP00000379823:p.Gly1491fs					COL4A3_uc002von.1_Frame_Shift_Del_p.G1491fs|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_Intron	p.G1491fs	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)	49	4633	+		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)	1491			Required for the anti-angiogenic activity of tumstatin.|Collagen IV NC1.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Frame_Shift_Del	DEL	ENST00000396578.3	37	c.4471delG	CCDS42829.1																																																																																				0.368	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		75	21	NA	NA	NA	NA	75	21	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113461126	113461127	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:113461126_113461127insT	ENST00000505019.1	-	27	6189_6190	c.6064_6065insA	c.(6064-6066)agafs	p.R2022fs	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		2022						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AACATTCATTCTTTTTTCTGAA	0.406																																						uc003iau.2		NA																	0					0						c.(6064-6066)AGAfs		prematurely terminated mRNA decay factor-like																																				SO:0001589	frameshift_variant	55345					integral to membrane	zinc ion binding	g.chr4:113461126_113461127insT																												ENST00000505019.1:c.6065dupA	4.37:g.113461132_113461132dupT	ENSP00000424737:p.Arg2022fs					C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Frame_Shift_Ins_p.R480fs	p.R2022fs	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	27	6275_6276	-		Ovarian(17;0.156)	844					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Frame_Shift_Ins	INS	ENST00000505019.1	37	c.6064_6065insA																																																																																					0.406	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			20	45	NA	NA	NA	NA	20	45	---	---	---	---
CCNA2	890	broad.mit.edu	37	4	122743676	122743678	+	In_Frame_Del	DEL	CTT	CTT	-	rs140275604	byFrequency	TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr4:122743676_122743678delCTT	ENST00000274026.5	-	2	640_642	c.337_339delAAG	c.(337-339)aagdel	p.K113del		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	113					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATTCAGCTGGCTTCTTCTGAGCT	0.433																																						uc003iec.3		NA																	0				ovary(1)	1						c.(337-339)AAGdel		cyclin A																																				SO:0001651	inframe_deletion	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122743676_122743678delCTT		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.337_339delAAG	4.37:g.122743679_122743681delCTT	ENSP00000274026:p.Lys113del						p.K113del	NM_001237	NP_001228	P20248	CCNA2_HUMAN			2	642_644	-			113					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	In_Frame_Del	DEL	ENST00000274026.5	37	c.337_339delAAG	CCDS3723.1																																																																																				0.433	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		10	130	NA	NA	NA	NA	10	130	---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28269721	28269721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6992-01A-11D-1912-08	TCGA-CN-6992-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7a70356c-74a3-40c3-bd32-3049da642831	a6505059-a7f7-44bb-9d7b-9554b28effc9	g.chr6:28269721delT	ENST00000405948.2	+	7	2510	c.2090delT	c.(2089-2091)ctgfs	p.L697fs	PGBD1_ENST00000259883.3_Frame_Shift_Del_p.L697fs	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	697						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATTATCAGTCTGTGCTCCAAT	0.383																																						uc003nky.2		NA																	0				ovary(4)	4						c.(2089-2091)CTGfs		piggyBac transposable element derived 1							178.0	173.0	175.0					6																	28269721		2203	4300	6503	SO:0001589	frameshift_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269721delT	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2090delT	6.37:g.28269721delT	ENSP00000385213:p.Leu697fs					PGBD1_uc003nkz.2_Frame_Shift_Del_p.L697fs	p.L697fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	2460	+			697					Q53F43|Q6NTF5|Q8WWS4	Frame_Shift_Del	DEL	ENST00000405948.2	37	c.2090delT	CCDS4648.1																																																																																				0.383	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			37	71	NA	NA	NA	NA	37	71	---	---	---	---
