#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
UBE4B	10277	broad.mit.edu	37	1	10239993	10239993	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:10239993G>A	ENST00000253251.8	+	27	4340	c.3501G>A	c.(3499-3501)gaG>gaA	p.E1167E	UBE4B_ENST00000377157.3_Silent_p.E1055E|UBE4B_ENST00000343090.6_Silent_p.E1296E					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GGATGAGAGAGAAACAGAACA	0.552																																						uc001aqs.3		NA																	0				ovary(2)|skin(2)	4						c.(3886-3888)GAG>GAA		ubiquitination factor E4B isoform 1							117.0	112.0	114.0					1																	10239993		2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10239993G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3501G>A	1.37:g.10239993G>A						UBE4B_uc001aqr.3_Silent_p.E1167E|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.E751E|UBE4B_uc001aqu.2_Silent_p.E177E	p.E1296E	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	28	4601	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1296						Silent	SNP	ENST00000253251.8	37	c.3888G>A	CCDS110.1																																																																																				0.552	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		8	40	0	0	0	0	8	40				
PTCHD2	57540	broad.mit.edu	37	1	11561896	11561896	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:11561896G>A	ENST00000294484.6	+	2	985	c.847G>A	c.(847-849)Ggc>Agc	p.G283S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G283S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	283					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTGGCGCGCGGCGACGCGGA	0.647																																						uc001ash.3		NA																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(847-849)GGC>AGC		patched domain containing 2							20.0	21.0	21.0					1																	11561896		2003	4175	6178	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561896G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.847G>A	1.37:g.11561896G>A	ENSP00000294484:p.Gly283Ser					PTCHD2_uc001asi.1_Missense_Mutation_p.G283S	p.G283S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	985	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	283			Extracellular (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.847G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517456	0.96416	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.49139	0.79;0.79	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59558	-0.7432	10	0.49607	T	0.09	-33.3897	18.7612	0.91851	0.0:0.0:1.0:0.0	.	283	Q9P2K9	PTHD2_HUMAN	S	283	ENSP00000294484:G283S;ENSP00000374226:G283S	ENSP00000294484:G283S	G	+	1	0	PTCHD2	11484483	1.000000	0.71417	0.972000	0.41901	0.987000	0.75469	9.313000	0.96297	2.677000	0.91161	0.655000	0.94253	GGC		0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		5	20	0	0	0	0	5	20				
ARHGEF10L	55160	broad.mit.edu	37	1	18023742	18023742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:18023742G>T	ENST00000361221.3	+	29	3866	c.3707G>T	c.(3706-3708)tGc>tTc	p.C1236F	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.C939F|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.C1197F|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.C1009F|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.C1197F|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1236						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGGAGATTTGCTCTGTGGCC	0.687																																						uc001ban.2		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(3706-3708)TGC>TTC		Rho guanine nucleotide exchange factor (GEF)							31.0	33.0	32.0					1																	18023742		2196	4283	6479	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18023742G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3707G>T	1.37:g.18023742G>T	ENSP00000355060:p.Cys1236Phe					ARHGEF10L_uc001bao.2_Missense_Mutation_p.C1197F|ARHGEF10L_uc001bap.2_Missense_Mutation_p.C1192F|ARHGEF10L_uc001baq.2_Missense_Mutation_p.C997F|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.C1009F|ARHGEF10L_uc001bar.2_Missense_Mutation_p.C939F|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.C260F	p.C1236F	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	29	3866	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1236					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3707G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525962	0.44969	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;T;T	0.59083	0.56;0.57;0.57;0.29;2.55	5.0	4.07	0.47477	.	0.750291	0.12735	N	0.443489	T	0.45337	0.1337	N	0.22421	0.69	0.34802	D	0.736869	P;P;B;P;P;P	0.40875	0.612;0.727;0.295;0.731;0.727;0.607	B;B;B;B;B;B	0.40506	0.171;0.331;0.122;0.32;0.263;0.135	T	0.59532	-0.7437	10	0.72032	D	0.01	-13.9622	10.4431	0.44477	0.0:0.3112:0.6888:0.0	.	1009;939;997;1192;1197;1236	Q5VXI4;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;ARGAL_HUMAN	F	1236;1197;1197;1009;939	ENSP00000355060:C1236F;ENSP00000399401:C1197F;ENSP00000364564:C1197F;ENSP00000364557:C1009F;ENSP00000167825:C939F	ENSP00000167825:C939F	C	+	2	0	ARHGEF10L	17896329	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.123000	0.41996	2.294000	0.77228	0.655000	0.94253	TGC		0.687	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		13	31	1	0	7.04e-09	7.9e-09	13	31				
KPNA6	23633	broad.mit.edu	37	1	32628883	32628883	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:32628883A>G	ENST00000373625.3	+	10	1052	c.959A>G	c.(958-960)aAc>aGc	p.N320S	KPNA6_ENST00000545542.1_Missense_Mutation_p.N325S|KPNA6_ENST00000537234.1_Missense_Mutation_p.N317S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	320	NLS binding site (minor). {ECO:0000250}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCCGTGGGTAACATCGTCACT	0.542																																						uc001bug.2		NA																	0					0						c.(958-960)AAC>AGC		karyopherin alpha 6							99.0	78.0	85.0					1																	32628883		2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32628883A>G	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.959A>G	1.37:g.32628883A>G	ENSP00000362728:p.Asn320Ser					KPNA6_uc001buh.2_Missense_Mutation_p.N95S|KPNA6_uc010ogx.1_Missense_Mutation_p.N317S|KPNA6_uc010ogy.1_Missense_Mutation_p.N325S|KPNA6_uc009vtz.2_Missense_Mutation_p.N215S	p.N320S	NM_012316	NP_036448	O60684	IMA7_HUMAN			10	1047	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	320			NLS binding site (minor) (By similarity).|ARM 6.		B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.959A>G	CCDS352.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687498	0.88639	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.91	4.91	0.64330	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.976;0.986;0.994	D	0.95655	0.8710	10	0.87932	D	0	-14.3268	15.2571	0.73593	1.0:0.0:0.0:0.0	.	325;325;320	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	S	320;250;317;325;227	ENSP00000362728:N320S;ENSP00000444930:N317S;ENSP00000440609:N325S;ENSP00000415677:N227S	ENSP00000362719:N250S	N	+	2	0	KPNA6	32401470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.154000	0.67381	0.533000	0.62120	AAC		0.542	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		6	18	0	0	0	0	6	18				
MAEL	84944	broad.mit.edu	37	1	166985521	166985521	+	Splice_Site	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:166985521C>T	ENST00000367872.4	+	9	1152	c.908C>T	c.(907-909)gCg>gTg	p.A303V	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Splice_Site_p.A272V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	303					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.A303V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AAGAAGATTGCGTAAGTTGGG	0.368																																						uc001gdy.1		NA																	1	Substitution - Missense(1)		endometrium(1)	skin(1)	1						c.(907-909)GCG>GTG		maelstrom homolog							145.0	144.0	144.0					1																	166985521		2203	4300	6503	SO:0001630	splice_region_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166985521C>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.908+1C>T	1.37:g.166985521C>T						MAEL_uc001gdz.1_Missense_Mutation_p.A272V|MAEL_uc009wvf.1_RNA	p.A303V	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			9	979	+			303					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.908C>T	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218366	0.58560	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.57907	0.38;0.37;0.45	5.0	5.0	0.66597	.	0.105859	0.41823	D	0.000810	T	0.24198	0.0586	N	0.24115	0.695	0.39388	D	0.966379	P;P	0.40398	0.716;0.53	B;B	0.34536	0.185;0.152	T	0.21724	-1.0237	10	0.54805	T	0.06	.	13.6673	0.62403	0.0:1.0:0.0:0.0	.	272;303	E9JVC3;Q96JY0	.;MAEL_HUMAN	V	303;272;272;25	ENSP00000356846:A303V;ENSP00000356844:A272V;ENSP00000402143:A272V	ENSP00000356844:A272V	A	+	2	0	MAEL	165252145	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	3.882000	0.56160	2.612000	0.88384	0.591000	0.81541	GCG		0.368	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	Missense_Mutation	11	52	0	0	0	0	11	52				
DUSP27	92235	broad.mit.edu	37	1	167095880	167095880	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:167095880G>A	ENST00000361200.2	+	6	1678	c.1512G>A	c.(1510-1512)gcG>gcA	p.A504A	DUSP27_ENST00000271385.5_Silent_p.A504A|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.A504A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	504					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGAGGAGGCGGCAGACAGGA	0.602																																						uc001geb.1		NA																	0				ovary(3)	3						c.(1510-1512)GCG>GCA		dual specificity phosphatase 27							53.0	50.0	51.0					1																	167095880		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095880G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1512G>A	1.37:g.167095880G>A							p.A504A	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	1512	+			504					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1512G>A	CCDS30932.1																																																																																				0.602	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		11	29	0	0	0	0	11	29				
RASAL2	9462	broad.mit.edu	37	1	178411963	178411963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:178411963G>A	ENST00000462775.1	+	6	762	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	RASAL2_ENST00000367649.3_Missense_Mutation_p.G361S|RASAL2_ENST00000448150.3_Missense_Mutation_p.G343S	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	213	C2.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TATTTTCTGGGGCGAACATTT	0.388																																						uc001glr.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)	5						c.(637-639)GGC>AGC		RAS protein activator like 2 isoform 1							87.0	90.0	89.0					1																	178411963		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178411963G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.637G>A	1.37:g.178411963G>A	ENSP00000420558:p.Gly213Ser					RASAL2_uc001glq.2_Missense_Mutation_p.G361S	p.G213S	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			6	762	+			213			C2.		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.637G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334607	0.95758	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.71222	-0.55;-0.55;-0.55	5.75	5.75	0.90469	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86331	0.5907	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87386	0.2360	10	0.87932	D	0	.	19.9405	0.97159	0.0:0.0:1.0:0.0	.	213;361	Q9UJF2;F8W755	NGAP_HUMAN;.	S	343;361;213	ENSP00000407768:G343S;ENSP00000356621:G361S;ENSP00000420558:G213S	ENSP00000356621:G361S	G	+	1	0	RASAL2	176678586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.731000	0.98807	2.716000	0.92895	0.650000	0.86243	GGC		0.388	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		16	84	0	0	0	0	16	84				
CYB5R1	51706	broad.mit.edu	37	1	202935050	202935050	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:202935050C>T	ENST00000367249.4	-	4	384	c.310G>A	c.(310-312)Gat>Aat	p.D104N	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	104	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TGATCCTCATCACTGGTGACA	0.507																																						uc001gyt.2		NA																	0				ovary(1)	1						c.(310-312)GAT>AAT		cytochrome b5 reductase 1							152.0	128.0	136.0					1																	202935050		2203	4300	6503	SO:0001583	missense	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202935050C>T	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.310G>A	1.37:g.202935050C>T	ENSP00000356218:p.Asp104Asn					CYB5R1_uc010pqe.1_RNA	p.D104N	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		4	381	-			104			FAD-binding FR-type.		A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	c.310G>A	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885862	0.72410	.	.	ENSG00000159348	ENST00000367249	D	0.85013	-1.93	5.93	5.01	0.66863	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	M	0.67700	2.07	0.80722	D	1	B	0.20887	0.049	B	0.31016	0.123	T	0.82483	-0.0435	10	0.52906	T	0.07	-3.9509	13.1285	0.59368	0.0:0.9222:0.0:0.0778	.	104	Q9UHQ9	NB5R1_HUMAN	N	104	ENSP00000356218:D104N	ENSP00000356218:D104N	D	-	1	0	CYB5R1	201201673	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.700000	0.68318	1.512000	0.48834	0.591000	0.81541	GAT		0.507	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		6	26	0	0	0	0	6	26				
GALNT2	2590	broad.mit.edu	37	1	230381875	230381875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:230381875G>A	ENST00000366672.4	+	8	868	c.796G>A	c.(796-798)Gca>Aca	p.A266T	GALNT2_ENST00000541865.1_Missense_Mutation_p.A176T|GALNT2_ENST00000543760.1_Missense_Mutation_p.A228T	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	266					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A266P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTATGTGGGGGCATCTGCTGA	0.493																																						uc010pwa.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)	2						c.(796-798)GCA>ACA		polypeptide N-acetylgalactosaminyltransferase 2							163.0	137.0	146.0					1																	230381875		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230381875G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.796G>A	1.37:g.230381875G>A	ENSP00000355632:p.Ala266Thr					GALNT2_uc010pvy.1_Missense_Mutation_p.A228T|GALNT2_uc010pvz.1_RNA	p.A266T	NM_004481	NP_004472	Q10471	GALT2_HUMAN			8	868	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	266			Lumenal (Potential).		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.796G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326597	0.95708	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291;ENST00000541865	T;T;T	0.59364	0.27;0.27;0.27	5.32	5.32	0.75619	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.987	T	0.76570	-0.2911	10	0.46703	T	0.11	.	17.7699	0.88489	0.0:0.0:1.0:0.0	.	266;228	Q10471;G3V1S6	GALT2_HUMAN;.	T	228;266;147;176	ENSP00000445017:A228T;ENSP00000355632:A266T;ENSP00000444346:A176T	ENSP00000355632:A266T	A	+	1	0	GALNT2	228448498	1.000000	0.71417	0.981000	0.43875	0.864000	0.49448	9.328000	0.96403	2.492000	0.84095	0.313000	0.20887	GCA		0.493	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		9	45	0	0	0	0	9	45				
CELF2	10659	broad.mit.edu	37	10	11370983	11370983	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:11370983G>A	ENST00000379261.4	+	13	1586	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	CELF2_ENST00000537122.1_Silent_p.L393L|CELF2_ENST00000427450.1_Silent_p.L480L|CELF2_ENST00000354897.3_Silent_p.L492L|CELF2_ENST00000542579.1_Silent_p.L511L|CELF2_ENST00000417956.2_Silent_p.L478L|CELF2_ENST00000416382.2_Silent_p.L498L|CELF2_ENST00000315874.4_Silent_p.L480L|CELF2_ENST00000399850.3_Silent_p.L480L|CELF2_ENST00000450189.1_Silent_p.L511L|CELF2_ENST00000354440.2_Silent_p.L480L|CELF2_ENST00000608830.1_Silent_p.L478L|CELF2_ENST00000609692.1_Silent_p.L430L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	498	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						AGGTGCAGCTGAAGCGTTCCA	0.488																																						uc001iki.3		NA																	0					0						c.(1492-1494)CTG>CTA		CUG triplet repeat, RNA binding protein 2							89.0	89.0	89.0					10																	11370983		2043	4232	6275	SO:0001819	synonymous_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11370983G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1494G>A	10.37:g.11370983G>A						CELF2_uc010qbj.1_Silent_p.L504L|CELF2_uc001ikk.2_Silent_p.L523L|CELF2_uc001ikl.3_Silent_p.L511L|CELF2_uc010qbl.1_Silent_p.L474L|CELF2_uc010qbm.1_Silent_p.L270L|CELF2_uc001iko.3_Silent_p.L478L|CELF2_uc001ikp.3_Silent_p.L480L|CELF2_uc010qbn.1_Silent_p.L486L|CELF2_uc010qbo.1_Silent_p.L393L|CELF2_uc010qbp.1_Silent_p.L270L	p.L498L	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			13	1586	+			498			RRM 3.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	ENST00000379261.4	37	c.1494G>A	CCDS44354.1																																																																																				0.488	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				12	59	0	0	0	0	12	59				
SEC61A2	55176	broad.mit.edu	37	10	12191922	12191922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:12191922G>A	ENST00000298428.9	+	6	513	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	SEC61A2_ENST00000304267.8_Missense_Mutation_p.E142K|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379017.3_Missense_Mutation_p.E142K|SEC61A2_ENST00000379033.3_Missense_Mutation_p.E120K|SEC61A2_ENST00000379020.4_Missense_Mutation_p.E142K|SEC61A2_ENST00000379051.1_Missense_Mutation_p.E142K	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	142					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGACCCTGCAGAAATGGGTGC	0.428																																						uc001ile.2		NA																	0				ovary(1)	1						c.(424-426)GAA>AAA		Sec61 alpha form 2 isoform a							153.0	147.0	149.0					10																	12191922		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12191922G>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.424G>A	10.37:g.12191922G>A	ENSP00000298428:p.Glu142Lys					SEC61A2_uc010qbq.1_Missense_Mutation_p.E120K|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Missense_Mutation_p.E142K	p.E142K	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN			6	571	+		Renal(717;0.228)	142			Lumenal (Potential).		A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.424G>A	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.61|16.61	3.172542|3.172542	0.57584|0.57584	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379051;ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000379017|ENST00000418772;ENST00000419021	.|.	.|.	.|.	5.07|5.07	5.07|5.07	0.68467|0.68467	SecY subunit domain (2);|.	0.000000|.	0.53938|.	D|.	0.000053|.	T|T	0.71634|0.71634	0.3363|0.3363	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.14578|.	0.008;0.011;0.007|.	T|T	0.70226|0.70226	-0.4930|-0.4930	9|5	0.22706|.	T|.	0.39|.	-10.4431|-10.4431	17.4325|17.4325	0.87543|0.87543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	120;142;142|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	K|K	142;120;142;142;142;142|87;23	.|.	ENSP00000298428:E142K|.	E|R	+|+	1|2	0|0	SEC61A2|SEC61A2	12231928|12231928	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.575000|0.575000	0.36095|0.36095	9.724000|9.724000	0.98775|0.98775	2.354000|2.354000	0.79902|0.79902	0.467000|0.467000	0.42956|0.42956	GAA|AGA		0.428	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		15	60	0	0	0	0	15	60				
HPS6	79803	broad.mit.edu	37	10	103826339	103826339	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:103826339G>A	ENST00000299238.5	+	1	1193	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	370					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAAGAGCTGGAGACCCGAGG	0.582									Hermansky-Pudlak syndrome																													uc001kuj.2		NA																	0					0						c.(1108-1110)GAG>AAG		Hermansky-Pudlak syndrome-6							51.0	54.0	53.0					10																	103826339		2203	4300	6503	SO:0001583	missense	79803	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826339G>A	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1108G>A	10.37:g.103826339G>A	ENSP00000299238:p.Glu370Lys						p.E370K	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1193	+		Colorectal(252;0.122)	370					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.1108G>A	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164574	0.57476	.	.	ENSG00000166189	ENST00000299238	T	0.76968	-1.06	4.78	4.78	0.61160	.	0.314087	0.29572	N	0.011776	T	0.60170	0.2248	N	0.08118	0	0.27728	N	0.944914	P	0.50819	0.939	P	0.45829	0.494	T	0.57516	-0.7798	10	0.48119	T	0.1	-13.1917	7.1534	0.25624	0.0923:0.2294:0.6783:0.0	.	370	Q86YV9	HPS6_HUMAN	K	370	ENSP00000299238:E370K	ENSP00000299238:E370K	E	+	1	0	HPS6	103816329	0.954000	0.32549	0.986000	0.45419	0.835000	0.47333	3.101000	0.50283	2.474000	0.83562	0.561000	0.74099	GAG		0.582	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		12	47	0	0	0	0	12	47				
SORCS3	22986	broad.mit.edu	37	10	106899230	106899230	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:106899230T>C	ENST00000369701.3	+	8	1515	c.1288T>C	c.(1288-1290)Tac>Cac	p.Y430H		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	430					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCTGCCTAAGTACTCGTTGCC	0.512																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1288-1290)TAC>CAC		VPS10 domain receptor protein SORCS 3 precursor							168.0	151.0	157.0					10																	106899230		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106899230T>C	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1288T>C	10.37:g.106899230T>C	ENSP00000358715:p.Tyr430His						p.Y430H	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	8	1515	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	430			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1288T>C	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575516	0.86645	.	.	ENSG00000156395	ENST00000369701	T	0.38077	1.16	5.66	5.66	0.87406	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.68277	-0.5451	10	0.54805	T	0.06	.	15.8895	0.79286	0.0:0.0:0.0:1.0	.	430	Q9UPU3	SORC3_HUMAN	H	430	ENSP00000358715:Y430H	ENSP00000358715:Y430H	Y	+	1	0	SORCS3	106889220	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.662000	0.83803	2.153000	0.67306	0.459000	0.35465	TAC		0.512	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		14	53	0	0	0	0	14	53				
SIRT3	23410	broad.mit.edu	37	11	219014	219014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr11:219014C>T	ENST00000382743.4	-	6	1099	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	SIRT3_ENST00000532956.1_Missense_Mutation_p.A279T|SIRT3_ENST00000529382.1_Missense_Mutation_p.A191T|SIRT3_ENST00000525319.1_Missense_Mutation_p.A252T|SIRT3_ENST00000524564.1_Missense_Mutation_p.A269T	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	333	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CTCCGCACGGCCTCGGTCAAG	0.612																																						uc001lok.3		NA																	0				urinary_tract(1)	1						c.(997-999)GCC>ACC		sirtuin 3 isoform a							45.0	42.0	43.0					11																	219014		2203	4300	6503	SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:219014C>T	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.997G>A	11.37:g.219014C>T	ENSP00000372191:p.Ala333Thr					SIRT3_uc001loj.3_Missense_Mutation_p.A191T|SIRT3_uc010qvm.1_Missense_Mutation_p.A269T|SIRT3_uc010qvn.1_Missense_Mutation_p.A252T|SIRT3_uc010qvo.1_Missense_Mutation_p.A333T|SIRT3_uc010qvp.1_Missense_Mutation_p.A279T|SIRT3_uc010qvq.1_Missense_Mutation_p.A191T	p.A333T	NM_012239	NP_036371	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	6	1031	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	333			Deacetylase sirtuin-type.		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.997G>A	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534034	0.27387	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	5.06	4.14	0.48551	.	0.106709	0.64402	D	0.000005	T	0.18257	0.0438	L	0.48877	1.53	0.45439	D	0.998418	B;B;B;B;B	0.28400	0.21;0.008;0.002;0.045;0.014	B;B;B;B;B	0.35039	0.194;0.006;0.002;0.02;0.004	T	0.03394	-1.1041	10	0.15952	T	0.53	-10.7541	14.4712	0.67517	0.1477:0.8523:0.0:0.0	.	279;333;252;269;333	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	T	333;252;269;279;191	ENSP00000372191:A333T;ENSP00000435464:A252T;ENSP00000432937:A269T;ENSP00000433077:A279T;ENSP00000437216:A191T	ENSP00000372191:A333T	A	-	1	0	SIRT3	209014	0.831000	0.29352	0.763000	0.31416	0.735000	0.41995	1.671000	0.37513	1.261000	0.44149	0.555000	0.69702	GCC		0.612	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			8	13	0	0	0	0	8	13				
ACSM4	341392	broad.mit.edu	37	12	7469847	7469847	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:7469847C>T	ENST00000399422.4	+	4	783	c.735C>T	c.(733-735)agC>agT	p.S245S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	245					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						CTCAGAGCAGCCTCGGCATTG	0.488																																						uc001qsx.1		NA																	0					0						c.(733-735)AGC>AGT		acyl-CoA synthetase medium-chain family member 4							41.0	43.0	43.0					12																	7469847		1943	4139	6082	SO:0001819	synonymous_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7469847C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.735C>T	12.37:g.7469847C>T							p.S245S	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			4	735	+			245					A8MTI6	Silent	SNP	ENST00000399422.4	37	c.735C>T	CCDS44825.1																																																																																				0.488	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		4	4	0	0	0	0	4	4				
CLEC9A	283420	broad.mit.edu	37	12	10213747	10213747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:10213747C>T	ENST00000355819.1	+	6	807	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	65					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TCCACCATTGCGATGCAGCAG	0.403																																						uc001qxa.2		NA																	0				ovary(1)	1						c.(193-195)GCG>GTG		C-type lectin domain family 9, member A							80.0	73.0	75.0					12																	10213747		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10213747C>T		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.194C>T	12.37:g.10213747C>T	ENSP00000348074:p.Ala65Val						p.A65V	NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN			6	807	+			65			Extracellular (Potential).		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.194C>T	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	C	0.187	-1.057065	0.01965	.	.	ENSG00000197992	ENST00000355819	T	0.01335	5.0	4.25	-0.409	0.12378	C-type lectin-like (1);	0.699285	0.12461	N	0.466903	T	0.00845	0.0028	N	0.10874	0.06	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.48080	-0.9066	10	0.14252	T	0.57	.	6.9341	0.24457	0.0:0.441:0.0:0.559	.	65	Q6UXN8	CLC9A_HUMAN	V	65	ENSP00000348074:A65V	ENSP00000348074:A65V	A	+	2	0	CLEC9A	10105014	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.013000	0.12678	-0.072000	0.12864	-0.137000	0.14449	GCG		0.403	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		5	16	0	0	0	0	5	16				
KRT79	338785	broad.mit.edu	37	12	53217762	53217762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:53217762C>T	ENST00000330553.5	-	6	1089	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	352	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGTTGTCCCCATGCTTCCC	0.612																																						uc001sbb.2		NA																	0				ovary(2)|skin(2)	4						c.(1054-1056)GGG>GAG		keratin 6L							83.0	66.0	72.0					12																	53217762		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53217762C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1055G>A	12.37:g.53217762C>T	ENSP00000328358:p.Gly352Glu					KRT79_uc001sba.2_Missense_Mutation_p.G123E	p.G352E	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			6	1088	-			352			Rod.|Coil 2.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1055G>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008178	0.75046	.	.	ENSG00000185640	ENST00000330553	T	0.74947	-0.89	3.9	3.9	0.45041	Filament (1);	0.139161	0.33005	N	0.005386	T	0.81004	0.4733	L	0.58583	1.82	0.47009	D	0.999289	D	0.56035	0.974	P	0.58013	0.831	T	0.83349	-0.0004	10	0.62326	D	0.03	.	16.1124	0.81273	0.0:1.0:0.0:0.0	.	352	Q5XKE5	K2C79_HUMAN	E	352	ENSP00000328358:G352E	ENSP00000328358:G352E	G	-	2	0	KRT79	51504029	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	3.456000	0.53000	2.457000	0.83068	0.511000	0.50034	GGG		0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		10	33	0	0	0	0	10	33				
OR6C4	341418	broad.mit.edu	37	12	55945682	55945682	+	Silent	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:55945682G>T	ENST00000394256.2	+	1	700	c.672G>T	c.(670-672)ctG>ctT	p.L224L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GGACTATTCTGAGGATCCCTT	0.468																																						uc010spp.1		NA																	0					0						c.(670-672)CTG>CTT		olfactory receptor, family 6, subfamily C,							148.0	127.0	134.0					12																	55945682		2203	4300	6503	SO:0001819	synonymous_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945682G>T	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.672G>T	12.37:g.55945682G>T							p.L224L	NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN			1	672	+			224			Cytoplasmic (Potential).		A8MZG7|B2RNN2|Q6IFK1	Silent	SNP	ENST00000394256.2	37	c.672G>T	CCDS31827.1																																																																																				0.468	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			13	64	1	0	4.37e-10	4.93e-10	13	64				
OAS2	4939	broad.mit.edu	37	12	113444282	113444282	+	Silent	SNP	A	A	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:113444282A>G	ENST00000342315.4	+	8	1747	c.1533A>G	c.(1531-1533)aaA>aaG	p.K511K	OAS2_ENST00000392583.2_Silent_p.K511K|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	511	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCTGTATAAATCCTCGGACC	0.512																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2		NA																	0				ovary(1)	1						c.(1531-1533)AAA>AAG		2'-5'-oligoadenylate synthetase 2 isoform 1							86.0	86.0	86.0					12																	113444282		2203	4300	6503	SO:0001819	synonymous_variant	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113444282A>G	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1533A>G	12.37:g.113444282A>G						OAS2_uc001tui.1_Silent_p.K511K	p.K511K	NM_016817	NP_058197	P29728	OAS2_HUMAN			8	1673	+			511			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	c.1533A>G	CCDS31906.1																																																																																				0.512	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			26	69	0	0	0	0	26	69				
RIMBP2	23504	broad.mit.edu	37	12	130892282	130892282	+	Missense_Mutation	SNP	C	C	T	rs142858015	byFrequency	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:130892282C>T	ENST00000261655.4	-	16	3077	c.2914G>A	c.(2914-2916)Gtc>Atc	p.V972I		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	972	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGACATCGACGTTGGGCGAG	0.567																																						uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2914-2916)GTC>ATC		RIM-binding protein 2		C	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	479.0	369.0	406.0		2914	3.9	0.9	12	dbSNP_134	406	0,8600		0,0,4300	no	missense	RIMBP2	NM_015347.4	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	972/1053	130892282	4,13002	2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130892282C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2914G>A	12.37:g.130892282C>T	ENSP00000261655:p.Val972Ile						p.V972I	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	16	3078	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	972			SH3 3.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2914G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	9.764	1.170823	0.21621	9.08E-4	0.0	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.29397	1.57;1.57	4.93	3.94	0.45596	Src homology-3 domain (3);Variant SH3 (1);	0.314624	0.29987	N	0.010696	T	0.14313	0.0346	N	0.03608	-0.345	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.05037	-1.0910	10	0.39692	T	0.17	-20.5699	10.726	0.46068	0.0:0.8958:0.0:0.1042	.	972	O15034	RIMB2_HUMAN	I	972;109	ENSP00000261655:V972I;ENSP00000439030:V109I	ENSP00000261655:V972I	V	-	1	0	RIMBP2	129458235	1.000000	0.71417	0.869000	0.34112	0.286000	0.27126	2.657000	0.46724	0.853000	0.35312	0.555000	0.69702	GTC		0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		52	186	0	0	0	0	52	186				
SAMD15	161394	broad.mit.edu	37	14	77844099	77844099	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr14:77844099G>A	ENST00000216471.4	+	1	624	c.338G>A	c.(337-339)aGa>aAa	p.R113K	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	113										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAAACATCCAGAGAGATGGGA	0.493																																						uc001xtq.1		NA																	0					0						c.(337-339)AGA>AAA		hypothetical protein LOC161394							144.0	156.0	152.0					14																	77844099		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77844099G>A	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.338G>A	14.37:g.77844099G>A	ENSP00000216471:p.Arg113Lys					TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	p.R113K	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	338	+			113					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.338G>A	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	9.515	1.106855	0.20714	.	.	ENSG00000100583	ENST00000216471	T	0.37058	1.22	5.43	2.58	0.30949	.	1.370330	0.05163	N	0.498248	T	0.29716	0.0742	L	0.46157	1.445	0.09310	N	1	B	0.26363	0.147	B	0.21546	0.035	T	0.25398	-1.0133	10	0.07175	T	0.84	0.0172	9.0836	0.36567	0.237:0.0:0.763:0.0	.	113	Q9P1V8	SAM15_HUMAN	K	113	ENSP00000216471:R113K	ENSP00000216471:R113K	R	+	2	0	SAMD15	76913852	0.365000	0.25006	0.005000	0.12908	0.008000	0.06430	0.527000	0.22987	1.282000	0.44496	-0.266000	0.10368	AGA		0.493	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		19	125	0	0	0	0	19	125				
ACSBG1	23205	broad.mit.edu	37	15	78526821	78526821	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr15:78526821C>T	ENST00000258873.4	-	1	228	c.23G>A	c.(22-24)gGa>gAa	p.G8E	ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	8					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCAGCCGTATCCAGCTCCAGA	0.597																																						uc002bdh.2		NA																	0				ovary(1)	1						c.(22-24)GGA>GAA		lipidosin							110.0	119.0	116.0					15																	78526821		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78526821C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.23G>A	15.37:g.78526821C>T	ENSP00000258873:p.Gly8Glu					ACSBG1_uc010umw.1_Missense_Mutation_p.G8E|ACSBG1_uc010umx.1_5'UTR|ACSBG1_uc010umy.1_5'UTR	p.G8E	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			1	79	-			8					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.23G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070724	0.76301	.	.	ENSG00000103740	ENST00000258873	T	0.35421	1.31	4.61	3.67	0.42095	.	0.189148	0.26003	N	0.026924	T	0.31827	0.0809	L	0.36672	1.1	0.25489	N	0.987664	D;D	0.54047	0.964;0.964	P;P	0.47673	0.554;0.554	T	0.16808	-1.0390	10	0.87932	D	0	-11.8615	7.9592	0.30062	0.0:0.8888:0.0:0.1112	.	8;8	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	E	8	ENSP00000258873:G8E	ENSP00000258873:G8E	G	-	2	0	ACSBG1	76313876	0.001000	0.12720	0.385000	0.26158	0.622000	0.37654	0.774000	0.26675	2.257000	0.74773	0.462000	0.41574	GGA		0.597	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		38	195	0	0	0	0	38	195				
AGBL1	123624	broad.mit.edu	37	15	87531246	87531246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr15:87531246C>G	ENST00000441037.2	+	23	3207	c.3112C>G	c.(3112-3114)Cat>Gat	p.H1038D	RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.H769D|AGBL1_ENST00000421325.2_Missense_Mutation_p.H1038D	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1038			Missing (in FECD8; enriched in the nucleus, decreased TCF4-binding). {ECO:0000269|PubMed:24094747}.		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)			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						cctgccaaagcatatttggtt	0.348																																						uc002blz.1		NA																	0					0						c.(3112-3114)CAT>GAT		ATP/GTP binding protein-like 1							241.0	232.0	235.0					15																	87531246		1851	4084	5935	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87531246C>G	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.3112C>G	15.37:g.87531246C>G	ENSP00000413001:p.His1038Asp						p.H1038D	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			23	3192	+			1038					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.3112C>G	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	0.071	-1.202014	0.01581	.	.	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.09817	2.96;2.94	1.47	-2.94	0.05581	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41945	-0.9480	9	0.07325	T	0.83	.	2.831	0.05499	0.2101:0.3103:0.0:0.4796	.	1038	Q96MI9	CBPC4_HUMAN	D	1038;769	ENSP00000397173:H1038D;ENSP00000373949:H769D	ENSP00000373949:H769D	H	+	1	0	AGBL1	85332250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.016000	0.13377	-1.455000	0.01923	-0.492000	0.04666	CAT		0.348	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		43	104	0	0	0	0	43	104				
ADAMTS17	170691	broad.mit.edu	37	15	100657103	100657103	+	Missense_Mutation	SNP	C	C	T	rs539824002		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr15:100657103C>T	ENST00000268070.4	-	13	1942	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	613	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTCAGCCGGTCGTGTGCCTGG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17780	0.0		0.0	False		,,,				2504	0.001					uc002bvv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1837-1839)GAC>AAC		ADAM metallopeptidase with thrombospondin type 1							73.0	57.0	63.0					15																	100657103		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100657103C>T	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1837G>A	15.37:g.100657103C>T	ENSP00000268070:p.Asp613Asn					ADAMTS17_uc002bvx.1_Missense_Mutation_p.D370N	p.D613N	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	13	1916	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		613			Cys-rich.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.1837G>A	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356767	0.61293	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.59083	0.29	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	N	0.16130	0.375	0.58432	D	0.999996	B;B	0.25312	0.003;0.123	B;B	0.10450	0.003;0.005	T	0.32402	-0.9908	10	0.08179	T	0.78	.	18.7048	0.91633	0.0:1.0:0.0:0.0	.	370;613	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	N	613;370	ENSP00000268070:D613N	ENSP00000268070:D613N	D	-	1	0	ADAMTS17	98474626	1.000000	0.71417	0.950000	0.38849	0.965000	0.64279	4.747000	0.62141	2.419000	0.82065	0.655000	0.94253	GAC		0.627	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		22	38	0	0	0	0	22	38				
PDXDC1	23042	broad.mit.edu	37	16	15128328	15128328	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr16:15128328G>A	ENST00000396410.4	+	21	2017	c.1920G>A	c.(1918-1920)caG>caA	p.Q640Q	PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000563679.1_Silent_p.Q658Q|PDXDC1_ENST00000325823.7_Silent_p.Q625Q|PDXDC1_ENST00000447912.2_Silent_p.Q549Q|PDXDC1_ENST00000569715.1_Silent_p.Q613Q|PDXDC1_ENST00000450288.2_Silent_p.Q612Q	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	640					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTTGCGGCAGATCCCTGTAG	0.602																																						uc002dda.3		NA																	0				skin(1)	1						c.(1918-1920)CAG>CAA		pyridoxal-dependent decarboxylase domain	Pyridoxal Phosphate(DB00114)						139.0	136.0	137.0					16																	15128328		2197	4300	6497	SO:0001819	synonymous_variant	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15128328G>A	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1920G>A	16.37:g.15128328G>A						PDXDC1_uc010uzl.1_Silent_p.Q625Q|PDXDC1_uc010uzm.1_Silent_p.Q549Q|PDXDC1_uc002ddb.3_Silent_p.Q613Q|PDXDC1_uc010uzn.1_Silent_p.Q612Q|PDXDC1_uc002ddc.2_Intron	p.Q640Q	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN			21	2144	+			640					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Silent	SNP	ENST00000396410.4	37	c.1920G>A	CCDS32393.1																																																																																				0.602	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		30	105	0	0	0	0	30	105				
TAOK2	9344	broad.mit.edu	37	16	29994159	29994159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr16:29994159G>A	ENST00000308893.4	+	11	1979	c.936G>A	c.(934-936)atG>atA	p.M312I	TAOK2_ENST00000543033.1_Missense_Mutation_p.M312I|TAOK2_ENST00000279394.3_Missense_Mutation_p.M312I|TAOK2_ENST00000416441.2_Missense_Mutation_p.M139I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	312					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ACCGCAAGATGAAGAAGATCC	0.607																																						uc002dva.1		NA																	0				ovary(1)	1						c.(934-936)ATG>ATA		TAO kinase 2 isoform 2							108.0	95.0	99.0					16																	29994159		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994159G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.936G>A	16.37:g.29994159G>A	ENSP00000310094:p.Met312Ile					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.M312I|TAOK2_uc002dvc.1_Missense_Mutation_p.M312I|TAOK2_uc010bzm.1_Missense_Mutation_p.M312I|TAOK2_uc002dvd.1_Missense_Mutation_p.M139I	p.M312I	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			11	1719	+			312					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.936G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901548	0.92035	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	D;D;D	0.83755	-1.76;-1.76;-1.76	5.51	5.51	0.81932	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	M	0.87180	2.865	0.80722	D	1	B;P;B;B;B	0.49862	0.13;0.929;0.048;0.028;0.13	B;P;B;B;B	0.62813	0.047;0.907;0.05;0.022;0.047	D	0.92159	0.5734	9	.	.	.	.	18.2023	0.89842	0.0:0.0:1.0:0.0	.	496;139;312;312;312	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	I	312	ENSP00000310094:M312I;ENSP00000440336:M312I;ENSP00000279394:M312I	.	M	+	3	0	TAOK2	29901660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.595000	0.87683	0.563000	0.77884	ATG		0.607	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		20	61	0	0	0	0	20	61				
THAP11	57215	broad.mit.edu	37	16	67876720	67876720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr16:67876720G>C	ENST00000303596.1	+	1	508	c.263G>C	c.(262-264)cGc>cCc	p.R88P	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GTCAATGAGCGCAAAGTAGCG	0.682																																						uc002euo.2		NA																	0					0						c.(262-264)CGC>CCC		THAP domain containing 11							17.0	18.0	17.0					16																	67876720		2197	4296	6493	SO:0001583	missense	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876720G>C	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.263G>C	16.37:g.67876720G>C	ENSP00000304689:p.Arg88Pro					CENPT_uc002eun.3_Intron	p.R88P	NM_020457	NP_065190	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	508	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	88					A4UCT5|A8K002|O94795	Missense_Mutation	SNP	ENST00000303596.1	37	c.263G>C	CCDS10847.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411361	0.62399	.	.	ENSG00000168286	ENST00000303596	T	0.45276	0.9	5.4	5.4	0.78164	.	0.064368	0.56097	D	0.000022	T	0.51160	0.1658	L	0.29908	0.895	0.54753	D	0.999986	D	0.76494	0.999	D	0.81914	0.995	T	0.52071	-0.8624	10	0.72032	D	0.01	1.5928	12.5058	0.55979	0.0775:0.0:0.9225:0.0	.	88	Q96EK4	THA11_HUMAN	P	88	ENSP00000304689:R88P	ENSP00000304689:R88P	R	+	2	0	THAP11	66434221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.182000	0.71995	2.687000	0.91594	0.563000	0.77884	CGC		0.682	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		7	17	0	0	0	0	7	17				
TP53	7157	broad.mit.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:7579374C>A	ENST00000269305.4	-	4	502	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	TP53_ENST00000445888.2_Missense_Mutation_p.G105C|TP53_ENST00000359597.4_Missense_Mutation_p.G105C|TP53_ENST00000455263.2_Missense_Mutation_p.G105C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G105C|TP53_ENST00000420246.2_Missense_Mutation_p.G105C	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	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (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.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	CCGTAGCTGCCCTGGTAGGTT	0.627		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		31	Deletion - Frameshift(12)|Substitution - Missense(8)|Whole gene deletion(8)|Complex - deletion inframe(2)|Deletion - In frame(1)	p.0?(7)|p.G105C(5)|p.G105fs*18(3)|p.G59fs*23(3)|p.G105R(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105S(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G105G(1)|p.G105D(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	ovary(6)|lung(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|central_nervous_system(3)|liver(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(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	CM043949	TP53	M		c.(313-315)GGC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							55.0	55.0	55.0					17																	7579374		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.chr17:7579374C>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.313G>T	17.37:g.7579374C>A	ENSP00000269305:p.Gly105Cys	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.G105C|TP53_uc002gih.2_Missense_Mutation_p.G105C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.G105C|TP53_uc010cni.1_Missense_Mutation_p.G105C|TP53_uc002gij.2_Missense_Mutation_p.G105C|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.G66C|TP53_uc010cnk.1_Missense_Mutation_p.G120C	p.G105C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	507	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	105		G -> D (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		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.313G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500135	0.64298	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	4.75	4.75	0.60458	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	0.99900	0.9952	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.995;0.998;1.0;1.0;0.999;1.0	D	0.96097	0.9066	10	0.87932	D	0	-24.4789	15.6419	0.77012	0.0:1.0:0.0:0.0	.	66;105;105;105;105;105;105	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	105	ENSP00000410739:G105C;ENSP00000352610:G105C;ENSP00000269305:G105C;ENSP00000398846:G105C;ENSP00000391127:G105C;ENSP00000391478:G105C;ENSP00000424104:G105C;ENSP00000426252:G105C	ENSP00000269305:G105C	G	-	1	0	TP53	7520099	1.000000	0.71417	0.206000	0.23566	0.368000	0.29767	6.208000	0.72165	2.630000	0.89119	0.655000	0.94253	GGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	38	1	0	3.99e-17	4.57e-17	31	38				
RAI1	10743	broad.mit.edu	37	17	17696924	17696924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:17696924C>T	ENST00000353383.1	+	3	1131	c.662C>T	c.(661-663)aCc>aTc	p.T221I	RAI1_ENST00000261641.6_Missense_Mutation_p.T221I	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	221	Gln-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCTCCTCCACCTACTCCTCC	0.627																																						uc002grm.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(661-663)ACC>ATC		retinoic acid induced 1							48.0	49.0	49.0					17																	17696924		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696924C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.662C>T	17.37:g.17696924C>T	ENSP00000323074:p.Thr221Ile					RAI1_uc002grn.1_Missense_Mutation_p.T221I	p.T221I	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1131	+			221			Gln-rich.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.662C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434927	0.25813	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641	T;T;T	0.69435	-0.4;2.34;0.19	4.47	4.47	0.54385	.	0.100727	0.43919	D	0.000515	T	0.77870	0.4195	L	0.50333	1.59	0.33043	D	0.531749	D	0.71674	0.998	D	0.80764	0.994	D	0.84108	0.0399	10	0.66056	D	0.02	.	17.1413	0.86754	0.0:1.0:0.0:0.0	.	221	Q7Z5J4	RAI1_HUMAN	I	221	ENSP00000323074:T221I;ENSP00000379120:T221I;ENSP00000261641:T221I	ENSP00000261641:T221I	T	+	2	0	RAI1	17637649	0.409000	0.25368	0.642000	0.29436	0.138000	0.21146	3.856000	0.55964	2.050000	0.60909	0.491000	0.48974	ACC		0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		36	68	0	0	0	0	36	68				
ARHGAP27	201176	broad.mit.edu	37	17	43472974	43472974	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:43472974G>A	ENST00000428638.1	-	17	2517	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R499C|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R499C|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R818C|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R472C|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R813C|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.R618C			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	840	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACCGACATGCGGTTCTGCTCG	0.667																																						uc002iix.2		NA																	0					0						c.(1495-1497)CGC>TGC		Rho GTPase activating protein 27 isoform a							30.0	26.0	28.0					17																	43472974		2203	4300	6503	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43472974G>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.2518C>T	17.37:g.43472974G>A	ENSP00000403323:p.Arg840Cys					ARHGAP27_uc010dak.2_Missense_Mutation_p.R472C	p.R499C	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN			17	1944	-	Renal(3;0.0405)		840			Rho-GAP.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.1495C>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.272235	0.80580	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05	4.45	4.45	0.53987	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59705	-0.7404	10	0.87932	D	0	.	9.7979	0.40746	0.0:0.0:0.7948:0.2052	.	813;840	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	C	618;499;472;818;840;813;499	ENSP00000432762:R618C;ENSP00000366121:R499C;ENSP00000431591:R472C;ENSP00000433942:R818C;ENSP00000403323:R840C;ENSP00000409330:R813C;ENSP00000408235:R499C	ENSP00000366121:R499C	R	-	1	0	ARHGAP27	40828757	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.956000	0.49129	2.320000	0.78422	0.549000	0.68633	CGC		0.667	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		3	9	0	0	0	0	3	9				
ANKRD30B	374860	broad.mit.edu	37	18	14782606	14782606	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr18:14782606A>C	ENST00000358984.4	+	12	1743	c.1563A>C	c.(1561-1563)gaA>gaC	p.E521D	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E521D	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	521										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAAATAGAGAAGTAGAAGGTA	0.313																																						uc010dlo.2		NA																	0				ovary(1)|skin(1)	2						c.(1561-1563)GAA>GAC		ankyrin repeat domain 30B							72.0	64.0	67.0					18																	14782606		692	1579	2271	SO:0001583	missense	374860							g.chr18:14782606A>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1563A>C	18.37:g.14782606A>C	ENSP00000351875:p.Glu521Asp					ANKRD30B_uc010xak.1_RNA	p.E521D	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			12	1743	+			521					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1563A>C	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	12.17	1.857025	0.32791	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.33438	3.43;1.41	1.11	-2.22	0.06952	.	.	.	.	.	T	0.17365	0.0417	L	0.29908	0.895	0.09310	N	1	P	0.49961	0.93	B	0.40444	0.329	T	0.10543	-1.0625	9	0.48119	T	0.1	.	4.0207	0.09664	0.4037:0.0:0.0:0.5963	.	521	F8WAG3	.	D	521	ENSP00000351875:E521D;ENSP00000399031:E521D	ENSP00000351875:E521D	E	+	3	2	ANKRD30B	14772606	0.876000	0.30132	0.001000	0.08648	0.327000	0.28475	1.159000	0.31749	-0.838000	0.04218	0.076000	0.15429	GAA		0.313	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		6	13	0	0	0	0	6	13				
LAMA3	3909	broad.mit.edu	37	18	21444832	21444832	+	Silent	SNP	G	G	A	rs200532263		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr18:21444832G>A	ENST00000313654.9	+	36	4909	c.4668G>A	c.(4666-4668)ccG>ccA	p.P1556P	LAMA3_ENST00000399516.3_Silent_p.P1556P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1556	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAAAGAAGCCGGATGTACAGC	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		20182	0.0		0.001	False		,,,				2504	0.0					uc002kuq.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(4666-4668)CCG>CCA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						90.0	86.0	88.0					18																	21444832		2031	4186	6217	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21444832G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4668G>A	18.37:g.21444832G>A						LAMA3_uc002kur.2_Silent_p.P1556P	p.P1556P	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			36	4754	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1556			Laminin IV type A.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.4668G>A	CCDS42419.1																																																																																				0.448	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		3	51	0	0	0	0	3	51				
DSEL	92126	broad.mit.edu	37	18	65179933	65179933	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr18:65179933T>A	ENST00000310045.7	-	2	3416	c.1943A>T	c.(1942-1944)gAt>gTt	p.D648V	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	638					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCCATGATGATCAAACCAAAA	0.348																																						uc002lke.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(1942-1944)GAT>GTT		dermatan sulfate epimerase-like							70.0	69.0	69.0					18																	65179933		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179933T>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1943A>T	18.37:g.65179933T>A	ENSP00000310565:p.Asp648Val						p.D648V	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	3167	-		Esophageal squamous(42;0.129)	638					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.1943A>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695622	0.68386	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20738	2.05	5.53	5.53	0.82687	.	0.000000	0.85682	U	0.000000	T	0.49762	0.1576	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55457	-0.8138	10	0.87932	D	0	.	15.3077	0.74004	0.0:0.0:0.0:1.0	.	638	Q8IZU8	DSEL_HUMAN	V	648;638	ENSP00000310565:D648V	ENSP00000310565:D648V	D	-	2	0	DSEL	63330913	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.812000	0.86109	2.110000	0.64415	0.379000	0.24179	GAT		0.348	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		12	44	0	0	0	0	12	44				
CARM1	10498	broad.mit.edu	37	19	11018790	11018790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:11018790C>T	ENST00000327064.4	+	3	612	c.422C>T	c.(421-423)aCg>aTg	p.T141M	CARM1_ENST00000344150.4_Missense_Mutation_p.T141M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	141					cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						AGCGAGCGGACGGAGGAGTCT	0.637																																						uc002mpz.2		NA																	0					0						c.(421-423)ACG>ATG		coactivator-associated arginine							141.0	125.0	130.0					19																	11018790		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11018790C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.422C>T	19.37:g.11018790C>T	ENSP00000325690:p.Thr141Met					CARM1_uc010dxn.2_RNA	p.T141M	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			3	548	+			141					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.422C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251564	0.80135	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.30448	1.53;1.55	5.43	4.4	0.53042	.	0.109676	0.64402	D	0.000010	T	0.58424	0.2121	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65800	-0.6080	10	0.72032	D	0.01	-3.5983	13.1802	0.59649	0.0:0.9213:0.0:0.0787	.	141	Q86X55	CARM1_HUMAN	M	141	ENSP00000325690:T141M;ENSP00000340934:T141M	ENSP00000325690:T141M	T	+	2	0	CARM1	10879790	1.000000	0.71417	0.770000	0.31555	0.747000	0.42532	7.099000	0.76981	1.421000	0.47157	0.563000	0.77884	ACG		0.637	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		15	77	0	0	0	0	15	77				
KANK2	25959	broad.mit.edu	37	19	11280802	11280802	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:11280802G>A	ENST00000586659.1	-	11	2648	c.2334C>T	c.(2332-2334)tgC>tgT	p.C778C	KANK2_ENST00000589894.1_Silent_p.C778C|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000355150.5_Silent_p.C778C|KANK2_ENST00000432929.2_Silent_p.C786C|KANK2_ENST00000589359.1_Silent_p.C786C			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	778	Interaction with NCOA1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCTCACAGGCGCACATGAGGG	0.637																																						uc010dxv.2		NA																	0					0						c.(2332-2334)TGC>TGT		ankyrin repeat domain 25 isoform 1							80.0	74.0	76.0					19																	11280802		2203	4300	6503	SO:0001819	synonymous_variant	25959							g.chr19:11280802G>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2334C>T	19.37:g.11280802G>A						KANK2_uc002mqm.2_Silent_p.C786C|KANK2_uc002mqo.3_Silent_p.C778C|KANK2_uc002mqp.1_Silent_p.C587C	p.C778C	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN			13	2892	-			778			ANK 4.		B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.2334C>T	CCDS12255.1																																																																																				0.637	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		15	44	0	0	0	0	15	44				
MED29	55588	broad.mit.edu	37	19	39879970	39879970	+	5'Flank	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:39879970G>A	ENST00000599213.2	+	0	0				PAF1_ENST00000221266.7_Missense_Mutation_p.S128F|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000595564.1_Missense_Mutation_p.S128F|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_Missense_Mutation_p.S138F			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GAACTCAGTGGAGATGTACTC	0.517																																						uc002old.2		NA																	0				pancreas(1)	1						c.(412-414)TCC>TTC		Paf1, RNA polymerase II associated factor,							111.0	99.0	103.0					19																	39879970		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879970G>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879970G>A	Exception_encountered					PAF1_uc002ole.1_Missense_Mutation_p.S128F|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	p.S138F	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		6	588	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		138					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.413C>T		.	.	.	.	.	.	.	.	.	.	g	21.1	4.102956	0.76983	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.83287	-0.0035	9	0.87932	D	0	-20.6753	16.5225	0.84321	0.0:0.0:1.0:0.0	.	128;138	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	F	138;128;85	.	ENSP00000221265:S138F	S	-	2	0	PAF1	44571810	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.012000	0.93624	2.764000	0.94973	0.558000	0.71614	TCC		0.517	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		11	53	0	0	0	0	11	53				
KIR2DL3	3804	broad.mit.edu	37	19	55250985	55250985	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:55250985G>A	ENST00000342376.3	+	2	98	c.67G>A	c.(67-69)Gag>Aag	p.E23K	KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.E23K|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	23					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTGGCCACATGAGGGTGAGTC	0.542																																						uc002qgv.2		NA																	0				ovary(2)	2						c.(67-69)GAG>AAG		killer cell immunoglobulin-like receptor, two							20.0	18.0	19.0					19																	55250985		1340	2432	3772	SO:0001583	missense	3804				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	g.chr19:55250985G>A	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.67G>A	19.37:g.55250985G>A	ENSP00000342215:p.Glu23Lys					KIR2DL3_uc002qgx.2_Missense_Mutation_p.E23K|KIR2DL3_uc002qgy.2_Missense_Mutation_p.E23K|KIR2DL3_uc010erw.1_Missense_Mutation_p.E23K|KIR2DL1_uc002qgz.1_5'UTR|KIR2DL3_uc002qha.1_5'Flank	p.E23K	NM_015868	NP_056952	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	85	+			23			Extracellular (Potential).		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.67G>A	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	G	8.219	0.802151	0.16397	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.00473	7.18;7.18	0.418	0.418	0.16429	Immunoglobulin-like fold (1);	.	.	.	.	T	0.00412	0.0013	L	0.49126	1.545	0.09310	N	1	B;P;B;B	0.44521	0.061;0.837;0.06;0.06	B;B;B;B	0.41412	0.062;0.356;0.062;0.062	T	0.51482	-0.8700	9	0.72032	D	0.01	.	6.6065	0.22727	1.0E-4:0.0:0.9999:0.0	.	23;23;23;23	E3NZD7;P43628-2;P43628;E3NZD8	.;.;KI2L3_HUMAN;.	K	23	ENSP00000342215:E23K;ENSP00000415758:E23K	ENSP00000342215:E23K	E	+	1	0	KIR2DL3	59942797	0.000000	0.05858	0.037000	0.18230	0.012000	0.07955	-1.422000	0.02453	0.453000	0.26858	0.184000	0.17185	GAG		0.542	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			19	77	0	0	0	0	19	77				
NLRP7	199713	broad.mit.edu	37	19	55450492	55450492	+	Silent	SNP	C	C	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:55450492C>G	ENST00000590030.1	-	3	1735	c.1695G>C	c.(1693-1695)gtG>gtC	p.V565V	NLRP7_ENST00000588756.1_Silent_p.V565V|NLRP7_ENST00000448121.2_Silent_p.V565V|NLRP7_ENST00000592784.1_Silent_p.V565V|NLRP7_ENST00000446217.1_Silent_p.V593V|NLRP7_ENST00000340844.2_Silent_p.V565V|NLRP7_ENST00000328092.5_Silent_p.V565V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	565							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGGTCGGTCACGGATAAGG	0.527																																						uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1693-1695)GTG>GTC		NACHT, leucine rich repeat and PYD containing 7							82.0	81.0	81.0					19																	55450492		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450492C>G	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1695G>C	19.37:g.55450492C>G						NLRP7_uc002qig.3_Silent_p.V565V|NLRP7_uc002qii.3_Silent_p.V565V|NLRP7_uc010esk.2_Silent_p.V565V|NLRP7_uc010esl.2_Silent_p.V593V	p.V565V	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1771	-			565					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1695G>C	CCDS33109.1																																																																																				0.527	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		21	39	0	0	0	0	21	39				
NT5C1B	93034	broad.mit.edu	37	2	18757571	18757571	+	Missense_Mutation	SNP	C	C	T	rs201567504		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:18757571C>T	ENST00000359846.2	-	9	1465	c.1388G>A	c.(1387-1389)cGt>cAt	p.R463H	NT5C1B_ENST00000304081.4_Missense_Mutation_p.R403H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R463H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R463H	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	463					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAAGGCTACACGGAGCTGAGT	0.443																																						uc002rcz.2		NA																	0				skin(2)|ovary(1)	3						c.(1387-1389)CGT>CAT		5' nucleotidase, cytosolic IB isoform 1							112.0	100.0	104.0					2																	18757571		2203	4300	6503	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18757571C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1388G>A	2.37:g.18757571C>T	ENSP00000352904:p.Arg463His					NT5C1B_uc002rcy.2_Missense_Mutation_p.R463H|NT5C1B_uc010exr.2_Missense_Mutation_p.R405H|NT5C1B_uc010yju.1_Missense_Mutation_p.R403H|NT5C1B_uc002rda.2_Missense_Mutation_p.R403H|NT5C1B_uc010yjv.1_Missense_Mutation_p.R480H|NT5C1B_uc010yjw.1_Missense_Mutation_p.R446H|NT5C1B_uc010exs.2_Missense_Mutation_p.R465H	p.R463H	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			9	1492	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	463					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1388G>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537103	0.96460	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.94092	-3.35	5.33	5.33	0.75918	.	0.051104	0.85682	D	0.000000	D	0.98058	0.9360	H	0.96805	3.885	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;1.0;1.0;1.0	D;D;D;P;D;D;D;D	0.91635	0.998;0.998;0.998;0.903;0.999;0.997;0.998;0.991	D	0.98997	1.0810	10	0.72032	D	0.01	-0.6691	19.3779	0.94518	0.0:1.0:0.0:0.0	.	446;480;403;446;405;403;463;463	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	H	463;405;403;463	ENSP00000412639:R405H	ENSP00000305979:R403H	R	-	2	0	NT5C1B-RDH14;NT5C1B	18621052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.758000	0.85224	2.654000	0.90174	0.655000	0.94253	CGT		0.443	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			11	31	0	0	0	0	11	31				
VWA3B	200403	broad.mit.edu	37	2	98914449	98914449	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:98914449C>T	ENST00000477737.1	+	24	3441	c.3237C>T	c.(3235-3237)tcC>tcT	p.S1079S	AC092675.1_ENST00000401293.1_RNA|VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1079										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCACCTCCTTCATCACGC	0.577																																						uc002syo.2		NA																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(3235-3237)TCC>TCT		von Willebrand factor A domain containing 3B							74.0	80.0	78.0					2																	98914449		2090	4195	6285	SO:0001819	synonymous_variant	200403							g.chr2:98914449C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3237C>T	2.37:g.98914449C>T						VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.S736S|VWA3B_uc002syp.1_Silent_p.S471S|VWA3B_uc002syq.1_Silent_p.S355S|VWA3B_uc002syr.1_Silent_p.S396S|VWA3B_uc002sys.2_RNA	p.S1079S	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			24	3501	+			1079					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.3237C>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	3.864	-0.029306	0.07589	.	.	ENSG00000168658	ENST00000473149	.	.	.	4.93	-9.85	0.00476	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.46078	D	0.99885	.	.	.	.	.	.	T	0.51442	-0.8705	4	.	.	.	.	5.8549	0.18714	0.4518:0.3533:0.1282:0.0667	.	.	.	.	F	490	.	.	L	+	1	0	VWA3B	98280881	0.000000	0.05858	0.135000	0.22099	0.455000	0.32408	-2.819000	0.00750	-2.921000	0.00304	-0.868000	0.02995	CTT		0.577	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		9	59	0	0	0	0	9	59				
LRP1B	53353	broad.mit.edu	37	2	141806672	141806672	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:141806672G>T	ENST00000389484.3	-	11	2643	c.1672C>A	c.(1672-1674)Cct>Act	p.P558T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	558					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)		AAAGCACGAGGGTTTACCAGA	0.438										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.(1672-1674)CCT>ACT		low density lipoprotein-related protein 1B							200.0	193.0	196.0					2																	141806672		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141806672G>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.1672C>A	2.37:g.141806672G>T	ENSP00000374135:p.Pro558Thr	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.P558T	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)	11	2644	-		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)	558			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1672C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178790	0.57692	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93019	-3.15	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000001	D	0.95433	0.8517	L	0.49640	1.575	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93413	0.6770	10	0.22109	T	0.4	.	19.3798	0.94527	0.0:0.0:1.0:0.0	.	558	Q9NZR2	LRP1B_HUMAN	T	558;496	ENSP00000374135:P558T	ENSP00000374135:P558T	P	-	1	0	LRP1B	141523142	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	9.728000	0.98792	2.565000	0.86533	0.563000	0.77884	CCT		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		31	116	1	0	1.62e-16	1.84e-16	31	116				
FIGN	55137	broad.mit.edu	37	2	164467771	164467771	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:164467771C>T	ENST00000333129.3	-	3	885	c.571G>A	c.(571-573)Gga>Aga	p.G191R	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	191					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAATATGATCCGTTGTATCCT	0.507																																						uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(571-573)GGA>AGA		fidgetin							77.0	81.0	80.0					2																	164467771		2027	4176	6203	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467771C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.571G>A	2.37:g.164467771C>T	ENSP00000333836:p.Gly191Arg						p.G191R	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	882	-			191					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.571G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825339	0.71143	.	.	ENSG00000182263	ENST00000333129	T	0.42900	0.96	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63161	-0.6699	10	0.48119	T	0.1	-10.1693	15.3641	0.74507	0.0:0.9335:0.0:0.0665	.	191	Q5HY92	FIGN_HUMAN	R	191	ENSP00000333836:G191R	ENSP00000333836:G191R	G	-	1	0	FIGN	164176017	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.818000	0.86416	1.579000	0.49836	0.650000	0.86243	GGA		0.507	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		6	39	0	0	0	0	6	39				
CASP8	841	broad.mit.edu	37	2	202131394	202131394	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:202131394T>C	ENST00000432109.2	+	3	374	c.185T>C	c.(184-186)cTg>cCg	p.L62P	CASP8_ENST00000358485.4_Missense_Mutation_p.L121P|CASP8_ENST00000323492.7_Missense_Mutation_p.L62P|CASP8_ENST00000392266.3_Missense_Mutation_p.L62P|CASP8_ENST00000264275.5_Missense_Mutation_p.L62P|CASP8_ENST00000392258.3_Missense_Mutation_p.L62P|CASP8_ENST00000264274.9_Missense_Mutation_p.L62P|CASP8_ENST00000392259.2_Missense_Mutation_p.L62P	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	62	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.L62P(1)|p.L121P(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGTCCTTCCTGAAGGAGCTG	0.453										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	2	Substitution - Missense(2)		large_intestine(2)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(184-186)CTG>CCG		caspase 8 isoform B precursor							72.0	73.0	72.0					2																	202131394		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202131394T>C	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.185T>C	2.37:g.202131394T>C	ENSP00000412523:p.Leu62Pro	HNSCC(4;0.00038)				CASP8_uc010ftc.1_Missense_Mutation_p.L62P|CASP8_uc002uxo.1_Missense_Mutation_p.L62P|CASP8_uc002uxp.1_Missense_Mutation_p.L62P|CASP8_uc002uxq.1_Missense_Mutation_p.L62P|CASP8_uc002uxs.1_Missense_Mutation_p.L62P|CASP8_uc002uxt.1_Missense_Mutation_p.L121P|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.L62P|CASP8_uc002uxw.1_Missense_Mutation_p.L62P|CASP8_uc002uxy.1_Missense_Mutation_p.L62P|CASP8_uc002uxx.1_Missense_Mutation_p.L62P|CASP8_uc010ftf.2_Missense_Mutation_p.L62P	p.L62P	NM_033355	NP_203519	Q14790	CASP8_HUMAN			3	394	+			62			DED 1.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.185T>C	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568149	0.65651	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.58	5.58	0.84498	DEATH-like (2);Death effector (3);	0.087674	0.53938	D	0.000054	D	0.96605	0.8892	H	0.94423	3.535	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.97660	1.0160	10	0.87932	D	0	.	14.9206	0.70835	0.0:0.0:0.0:1.0	.	62;62;62;62;121;62;62;62;62	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	P	62;62;62;62;62;62;62;62;62;121;62;62;62;62	ENSP00000376091:L62P;ENSP00000264274:L62P;ENSP00000376088:L62P;ENSP00000376094:L62P;ENSP00000412523:L62P;ENSP00000264275:L62P;ENSP00000396869:L62P;ENSP00000376087:L62P;ENSP00000388306:L62P;ENSP00000351273:L121P;ENSP00000397528:L62P;ENSP00000325722:L62P;ENSP00000390641:L62P	ENSP00000264274:L62P	L	+	2	0	CASP8	201839639	1.000000	0.71417	0.998000	0.56505	0.574000	0.36063	4.123000	0.57917	2.111000	0.64477	0.459000	0.35465	CTG		0.453	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		6	23	0	0	0	0	6	23				
NFATC2	4773	broad.mit.edu	37	20	50140118	50140118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr20:50140118G>A	ENST00000396009.3	-	2	881	c.662C>T	c.(661-663)tCa>tTa	p.S221L	NFATC2_ENST00000609943.1_Missense_Mutation_p.S201L|NFATC2_ENST00000609507.1_Missense_Mutation_p.S2L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S201L|NFATC2_ENST00000371564.3_Missense_Mutation_p.S221L|NFATC2_ENST00000610033.1_Missense_Mutation_p.S2L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	221	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGTTCGAGGTGACATTATTGG	0.652																																						uc002xwd.2		NA																	0				ovary(2)	2						c.(661-663)TCA>TTA		nuclear factor of activated T-cells,							60.0	70.0	67.0					20																	50140118		2202	4300	6502	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140118G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.662C>T	20.37:g.50140118G>A	ENSP00000379330:p.Ser221Leu					NFATC2_uc002xwc.2_Missense_Mutation_p.S221L|NFATC2_uc010zyv.1_Missense_Mutation_p.S2L|NFATC2_uc010zyw.1_Missense_Mutation_p.S2L|NFATC2_uc010zyx.1_Missense_Mutation_p.S201L|NFATC2_uc010zyy.1_Missense_Mutation_p.S2L|NFATC2_uc010zyz.1_Missense_Mutation_p.S2L|NFATC2_uc002xwe.2_Missense_Mutation_p.S201L	p.S221L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	882	-	Hepatocellular(150;0.248)		221			3 X approximate SP repeats.|2.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.662C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935664	0.92458	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.78924	-1.22;-1.22;-1.22	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89220	0.6653	M	0.80616	2.505	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.994;0.994;1.0	D;D;D;D	0.83275	0.994;0.983;0.985;0.996	D	0.90064	0.4158	10	0.87932	D	0	-8.278	19.5587	0.95364	0.0:0.0:1.0:0.0	.	201;201;221;221	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	221;221;2;201	ENSP00000360619:S221L;ENSP00000379330:S221L;ENSP00000396471:S201L	ENSP00000360619:S221L	S	-	2	0	NFATC2	49573525	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.818000	0.99354	2.626000	0.88956	0.313000	0.20887	TCA		0.652	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		20	71	0	0	0	0	20	71				
KRTAP6-3	337968	broad.mit.edu	37	21	31965096	31965096	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr21:31965096G>A	ENST00000391624.1	+	1	338	c.311G>A	c.(310-312)tGa>tAa	p.*104*	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	0						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						TACTACTATTGAGGACACCAT	0.512																																						uc002yom.2		NA																	0					0						c.(331-333)TGA>TAA		keratin associated protein 6-3							34.0	38.0	37.0					21																	31965096		2201	4300	6501	SO:0001819	synonymous_variant	337968							g.chr21:31965096G>A	AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"""Keratin associated proteins"""	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.311G>A	21.37:g.31965096G>A							p.*111*	NM_181605	NP_853636					1	338	+								A4IF26	Silent	SNP	ENST00000391624.1	37	c.332G>A																																																																																					0.512	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2	NM_181605		3	11	0	0	0	0	3	11				
CECR1	51816	broad.mit.edu	37	22	17669265	17669265	+	Missense_Mutation	SNP	C	C	T	rs74317375	byFrequency	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr22:17669265C>T	ENST00000399839.1	-	7	1315	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	CECR1_ENST00000330232.4_Missense_Mutation_p.V108I|CECR1_ENST00000449907.2_Missense_Mutation_p.V307I|CECR1_ENST00000399837.2_Missense_Mutation_p.V349I|CECR1_ENST00000480276.1_5'Flank|CECR1_ENST00000262607.3_Missense_Mutation_p.V349I	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	349					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGCAGCTTAACGCCATCCTTG	0.607													C|||	4	0.000798722	0.0008	0.0	5008	,	,		17719	0.0		0.003	False		,,,				2504	0.0					uc002zmk.1		NA																	0				ovary(1)	1						c.(1045-1047)GTT>ATT		cat eye syndrome critical region protein 1		C	ILE/VAL,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	99.0	81.0	87.0		1045,322	-8.2	0.0	22	dbSNP_131	87	24,8576	17.9+/-57.8	0,24,4276	yes	missense,missense	CECR1	NM_017424.2,NM_177405.1	29,29	0,28,6475	TT,TC,CC		0.2791,0.0908,0.2153	benign,benign	349/512,108/271	17669265	28,12978	2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17669265C>T	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1045G>A	22.37:g.17669265C>T	ENSP00000382733:p.Val349Ile					CECR1_uc010gqu.1_Missense_Mutation_p.V349I|CECR1_uc011agi.1_Missense_Mutation_p.V307I|CECR1_uc002zmj.1_Missense_Mutation_p.V108I	p.V349I	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN			6	1257	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	349					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.1045G>A	CCDS13742.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	6.245	0.413335	0.11812	9.08E-4	0.002791	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62	4.09	-8.18	0.01053	Adenosine/AMP deaminase (1);	0.778580	0.11662	N	0.541699	D	0.90263	0.6955	M	0.76938	2.355	0.09310	N	1	B;B	0.22211	0.066;0.045	B;B	0.17722	0.019;0.01	T	0.77112	-0.2708	10	0.35671	T	0.21	.	6.1813	0.20472	0.5126:0.3175:0.0:0.1699	.	349;108	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	I	349;108;349;307;349	ENSP00000382733:V349I;ENSP00000332871:V108I;ENSP00000262607:V349I;ENSP00000406443:V307I;ENSP00000382731:V349I	ENSP00000262607:V349I	V	-	1	0	CECR1	16049265	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.329000	0.02677	-0.920000	0.03799	-0.314000	0.08810	GTT		0.607	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			3	51	0	0	0	0	3	51				
ERC2	26059	broad.mit.edu	37	3	56044571	56044571	+	Missense_Mutation	SNP	C	C	T	rs371352737		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr3:56044571C>T	ENST00000288221.6	-	9	2081	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	609						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TAGTCTTTCCCGATCATCTCT	0.413													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19636	0.0		0.0	False		,,,				2504	0.0					uc003dhr.1		NA																	0				ovary(2)	2						c.(1825-1827)CGG>CAG		cytomatrix protein p110		C	GLN/ARG	0,3698		0,0,1849	247.0	223.0	231.0		1826	6.0	1.0	3		231	1,8183		0,1,4091	no	missense	ERC2	NM_015576.1	43	0,1,5940	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	609/958	56044571	1,11881	1849	4092	5941	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56044571C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1826G>A	3.37:g.56044571C>T	ENSP00000288221:p.Arg609Gln					ERC2_uc003dht.1_Missense_Mutation_p.R80Q	p.R609Q	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	9	2082	-			609			Potential.		Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.1826G>A	CCDS46851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.104046|5.104046	0.94245|0.94245	0.0|0.0	1.22E-4|1.22E-4	ENSG00000187672|ENSG00000187672	ENST00000492584|ENST00000288221	.|T	.|0.43688	.|0.94	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56615|0.56615	0.1997|0.1997	L|L	0.41492|0.41492	1.28|1.28	0.52099|0.52099	D|D	0.999948|0.999948	.|D	.|0.69078	.|0.997	.|D	.|0.70227	.|0.968	T|T	0.37502|0.37502	-0.9703|-0.9703	5|10	.|0.21540	.|T	.|0.41	-15.2977|-15.2977	20.5407|20.5407	0.99260|0.99260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|609	.|O15083	.|ERC2_HUMAN	R|Q	248|609	.|ENSP00000288221:R609Q	.|ENSP00000288221:R609Q	G|R	-|-	1|2	0|0	ERC2|ERC2	56019611|56019611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.413	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		13	49	0	0	0	0	13	49				
TIPARP	25976	broad.mit.edu	37	3	156396202	156396202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr3:156396202G>A	ENST00000461166.1	+	2	1304	c.716G>A	c.(715-717)gGa>gAa	p.G239E	TIPARP_ENST00000295924.7_Missense_Mutation_p.G239E|TIPARP_ENST00000542783.1_Missense_Mutation_p.G239E|TIPARP_ENST00000486483.1_Missense_Mutation_p.G239E	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	239					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAAGAGAACGGAATTGAAATT	0.458																																					Ovarian(171;276 1987 3319 6837 11197)	uc003fav.2		NA																	0				ovary(1)|breast(1)	2						c.(715-717)GGA>GAA		TCDD-inducible poly(ADP-ribose) polymerase							140.0	146.0	144.0					3																	156396202		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156396202G>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.716G>A	3.37:g.156396202G>A	ENSP00000420612:p.Gly239Glu					LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Missense_Mutation_p.G239E	p.G239E	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		2	964	+			239			C3H1-type.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.716G>A	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120019	0.37436	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.54	3.61	0.41365	Zinc finger, CCCH-type (1);	0.195772	0.42548	N	0.000684	T	0.34948	0.0915	L	0.47716	1.5	0.49299	D	0.999779	B	0.06786	0.001	B	0.09377	0.004	T	0.11842	-1.0571	10	0.52906	T	0.07	.	9.8065	0.40797	0.0824:0.1369:0.7807:0.0	.	239	Q7Z3E1	PARPT_HUMAN	E	239	ENSP00000418757:G239E;ENSP00000295924:G239E;ENSP00000420612:G239E;ENSP00000419982:G239E;ENSP00000418829:G239E;ENSP00000438345:G239E	ENSP00000295924:G239E	G	+	2	0	TIPARP	157878896	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	2.621000	0.46418	0.589000	0.29677	0.563000	0.77884	GGA		0.458	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		22	127	0	0	0	0	22	127				
FAT4	79633	broad.mit.edu	37	4	126371855	126371855	+	Silent	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr4:126371855G>C	ENST00000394329.3	+	9	9697	c.9684G>C	c.(9682-9684)gtG>gtC	p.V3228V	FAT4_ENST00000335110.5_Silent_p.V1526V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3228	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAATGCTGTGATTGCGTATA	0.428																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(9682-9684)GTG>GTC		FAT tumor suppressor homolog 4 precursor							89.0	82.0	84.0					4																	126371855		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371855G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9684G>C	4.37:g.126371855G>C						FAT4_uc011cgp.1_Silent_p.V1526V|FAT4_uc003ifi.1_Silent_p.V706V	p.V3228V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	9684	+			3228			Cadherin 31.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.9684G>C	CCDS3732.3																																																																																				0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	50	0	0	0	0	9	50				
LRBA	987	broad.mit.edu	37	4	151842388	151842388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr4:151842388G>A	ENST00000357115.3	-	5	850	c.607C>T	c.(607-609)Cct>Tct	p.P203S	LRBA_ENST00000535741.1_Missense_Mutation_p.P203S|LRBA_ENST00000507224.1_Missense_Mutation_p.P203S|LRBA_ENST00000510413.1_Missense_Mutation_p.P203S	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	203						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAGGCATCAGGACCATACTTC	0.383																																						uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(607-609)CCT>TCT		LPS-responsive vesicle trafficking, beach and							140.0	137.0	138.0					4																	151842388		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151842388G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.607C>T	4.37:g.151842388G>A	ENSP00000349629:p.Pro203Ser					LRBA_uc003ilu.3_Missense_Mutation_p.P203S|LRBA_uc010ipk.1_Missense_Mutation_p.P122S	p.P203S	NM_006726	NP_006717	P50851	LRBA_HUMAN			5	1081	-	all_hematologic(180;0.151)		203					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.607C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019592	0.93462	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);	0.000000	0.64402	D	0.000001	T	0.79505	0.4457	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;0.976;1.0	D;P;D	0.87578	0.996;0.877;0.998	T	0.81562	-0.0876	10	0.87932	D	0	.	19.0424	0.93006	0.0:0.0:1.0:0.0	.	203;203;203	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	S	203	ENSP00000446299:P203S;ENSP00000421552:P203S;ENSP00000349629:P203S;ENSP00000422180:P203S	ENSP00000349629:P203S	P	-	1	0	LRBA	152061838	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.392000	0.97252	2.569000	0.86673	0.650000	0.86243	CCT		0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			25	52	0	0	0	0	25	52				
FAT1	2195	broad.mit.edu	37	4	187549812	187549812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr4:187549812G>A	ENST00000441802.2	-	8	4638	c.4429C>T	c.(4429-4431)Caa>Taa	p.Q1477*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1477	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCACTGATTTGCAAAATTTCT	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(4429-4431)CAA>TAA		FAT tumor suppressor 1 precursor							113.0	107.0	109.0					4																	187549812		1866	4104	5970	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549812G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4429C>T	4.37:g.187549812G>A	ENSP00000406229:p.Gln1477*	HNSCC(5;0.00058)					p.Q1477*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			8	4617	-			1477			Extracellular (Potential).|Cadherin 13.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.4429C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	43	9.856438	0.99280	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.49	5.49	0.81192	.	0.229303	0.46145	D	0.000319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	19.5755	0.95441	0.0:0.0:1.0:0.0	.	.	.	.	X	1477	.	ENSP00000260147:Q1477X	Q	-	1	0	FAT1	187786806	1.000000	0.71417	0.691000	0.30163	0.033000	0.12548	7.700000	0.84556	2.865000	0.98341	0.655000	0.94253	CAA		0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	27	0	0	0	0	9	27				
TRIO	7204	broad.mit.edu	37	5	14488246	14488246	+	Silent	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:14488246G>C	ENST00000344204.4	+	48	7533	c.7509G>C	c.(7507-7509)ccG>ccC	p.P2503P	TRIO_ENST00000344135.5_5'Flank|TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2503					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCACCTTCCCGGGGGACAGCG	0.721																																						uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(7507-7509)CCG>CCC		triple functional domain (PTPRF interacting)							8.0	11.0	10.0					5																	14488246		1937	3877	5814	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14488246G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7509G>C	5.37:g.14488246G>C						TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Silent_p.P2152P	p.P2503P	NM_007118	NP_009049	O75962	TRIO_HUMAN			48	7515	+	Lung NSC(4;0.000742)		2503					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.7509G>C	CCDS3883.1																																																																																				0.721	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		4	15	0	0	0	0	4	15				
GPBP1	65056	broad.mit.edu	37	5	56546884	56546884	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:56546884C>T	ENST00000506184.2	+	10	2181	c.1076C>T	c.(1075-1077)gCc>gTc	p.A359V	GPBP1_ENST00000514387.2_Missense_Mutation_p.A188V|GPBP1_ENST00000538707.1_Missense_Mutation_p.A366V|GPBP1_ENST00000511209.1_Missense_Mutation_p.A351V|GPBP1_ENST00000264779.6_Missense_Mutation_p.A366V|GPBP1_ENST00000424459.3_Missense_Mutation_p.A379V|GPBP1_ENST00000454432.2_Missense_Mutation_p.A379V			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	359					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AATGGCAATGCCTCAGTGATT	0.393																																						uc003jrh.3		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1075-1077)GCC>GTC		GC-rich promoter binding protein 1 isoform 1							113.0	104.0	107.0					5																	56546884		2203	4300	6503	SO:0001583	missense	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56546884C>T		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1076C>T	5.37:g.56546884C>T	ENSP00000421202:p.Ala359Val					GPBP1_uc010iwg.2_Missense_Mutation_p.A379V|GPBP1_uc003jri.3_Missense_Mutation_p.A188V|GPBP1_uc003jrj.3_Missense_Mutation_p.A351V|GPBP1_uc003jrk.3_Missense_Mutation_p.A366V|GPBP1_uc003jrl.3_RNA	p.A359V	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	10	2350	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	359					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	c.1076C>T	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640809	0.67244	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.46063	1.88;0.88;1.89;1.88;1.89;1.89;1.88	5.87	5.0	0.66597	.	0.115919	0.64402	D	0.000011	T	0.35364	0.0929	N	0.08118	0	0.39564	D	0.969178	P;B;P;B	0.48162	0.617;0.047;0.906;0.021	B;B;P;B	0.51701	0.173;0.022;0.677;0.022	T	0.30297	-0.9983	10	0.25751	T	0.34	-2.5915	16.4474	0.83942	0.1323:0.8677:0.0:0.0	.	379;366;351;359	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	V	379;188;359;379;351;366;366	ENSP00000401596:A379V;ENSP00000421709:A188V;ENSP00000421202:A359V;ENSP00000403522:A379V;ENSP00000422337:A351V;ENSP00000264779:A366V;ENSP00000440090:A366V	ENSP00000264779:A366V	A	+	2	0	GPBP1	56582641	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	3.980000	0.56895	1.467000	0.48044	0.643000	0.83706	GCC		0.393	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		19	37	0	0	0	0	19	37				
RASA1	5921	broad.mit.edu	37	5	86681171	86681171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:86681171C>T	ENST00000274376.6	+	22	3376	c.2812C>T	c.(2812-2814)Cag>Tag	p.Q938*	RASA1_ENST00000512763.1_Nonsense_Mutation_p.Q771*|RASA1_ENST00000456692.2_Nonsense_Mutation_p.Q761*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.Q772*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	938	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TAAATCTGTGCAGAACTTAGC	0.353																																						uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2812-2814)CAG>TAG		RAS p21 protein activator 1 isoform 1							119.0	106.0	110.0					5																	86681171		2203	4300	6503	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86681171C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2812C>T	5.37:g.86681171C>T	ENSP00000274376:p.Gln938*					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.Q761*|RASA1_uc011ctv.1_Nonsense_Mutation_p.Q771*|RASA1_uc011ctw.1_Nonsense_Mutation_p.Q772*|RASA1_uc010jaw.2_Nonsense_Mutation_p.Q760*	p.Q938*	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	22	2930	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	938			Ras-GAP.		B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.2812C>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	41	8.571575	0.98868	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.56	5.56	0.83823	.	0.102536	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4995	0.95089	0.0:1.0:0.0:0.0	.	.	.	.	X	938;761;771;772	.	ENSP00000274376:Q938X	Q	+	1	0	RASA1	86716927	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.559000	0.82265	2.777000	0.95525	0.591000	0.81541	CAG		0.353	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		4	24	0	0	0	0	4	24				
AFF4	27125	broad.mit.edu	37	5	132269973	132269973	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:132269973C>T	ENST00000265343.5	-	3	1163	c.784G>A	c.(784-786)Gga>Aga	p.G262R	AFF4_ENST00000378595.3_Missense_Mutation_p.G262R|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	262	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACTCCTGTCCGTCCATGGGC	0.512																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NA																	0				ovary(2)|kidney(2)|skin(1)	5						c.(784-786)GGA>AGA		ALL1 fused gene from 5q31							176.0	156.0	163.0					5																	132269973		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132269973C>T	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.784G>A	5.37:g.132269973C>T	ENSP00000265343:p.Gly262Arg					AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.G262R|AFF4_uc003kyf.3_Missense_Mutation_p.G262R	p.G262R	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1192	-		all_cancers(142;0.145)|Breast(839;0.198)	262			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.784G>A	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469441	0.84533	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	D;D	0.83419	-1.72;-1.72	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92367	0.5902	10	0.56958	D	0.05	-9.9459	19.0511	0.93046	0.0:1.0:0.0:0.0	.	262;262;262	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	R	262	ENSP00000265343:G262R;ENSP00000367858:G262R	ENSP00000265343:G262R	G	-	1	0	AFF4	132297872	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.760000	0.85248	2.509000	0.84616	0.557000	0.71058	GGA		0.512	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		15	61	0	0	0	0	15	61				
PCDHB2	56133	broad.mit.edu	37	5	140475797	140475797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:140475797G>A	ENST00000194155.4	+	1	1571	c.1423G>A	c.(1423-1425)Gtc>Atc	p.V475I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCGGCAGCGTCAGCGCCAC	0.667																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1423-1425)GTC>ATC		protocadherin beta 2 precursor							62.0	68.0	66.0					5																	140475797		2201	4274	6475	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475797G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1423G>A	5.37:g.140475797G>A	ENSP00000194155:p.Val475Ile					PCDHB2_uc003lim.1_Missense_Mutation_p.V136I	p.V475I	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1561	+			475			Extracellular (Potential).|Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1423G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	0.463	-0.888140	0.02511	.	.	ENSG00000112852	ENST00000194155	T	0.02787	4.16	5.11	1.23	0.21249	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03011	0.0089	L	0.49256	1.55	0.09310	N	1	B	0.31611	0.331	B	0.30251	0.113	T	0.45789	-0.9237	9	0.23891	T	0.37	.	5.4408	0.16507	0.3838:0.1347:0.4815:0.0	.	475	Q9Y5E7	PCDB2_HUMAN	I	475	ENSP00000194155:V475I	ENSP00000194155:V475I	V	+	1	0	PCDHB2	140455981	0.532000	0.26346	0.012000	0.15200	0.000000	0.00434	0.949000	0.29109	0.008000	0.14787	-0.897000	0.02905	GTC		0.667	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		34	117	0	0	0	0	34	117				
PCDHB2	56133	broad.mit.edu	37	5	140476357	140476357	+	Silent	SNP	C	C	T	rs371660491		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:140476357C>T	ENST00000194155.4	+	1	2131	c.1983C>T	c.(1981-1983)caC>caT	p.H661H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	661	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGCTGCACGTGCTCCTGG	0.711																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1981-1983)CAC>CAT		protocadherin beta 2 precursor							40.0	40.0	40.0					5																	140476357		2105	4139	6244	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476357C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1983C>T	5.37:g.140476357C>T						PCDHB2_uc003lim.1_Silent_p.H322H	p.H661H	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2121	+			661			Cadherin 6.|Extracellular (Potential).		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1983C>T	CCDS4244.1																																																																																				0.711	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		5	58	0	0	0	0	5	58				
PCDHB13	56123	broad.mit.edu	37	5	140595724	140595724	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:140595724G>C	ENST00000341948.4	+	1	2216	c.2029G>C	c.(2029-2031)Gcc>Ccc	p.A677P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	677					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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGAGGCGGCCCCGACCCA	0.682																																						uc003lja.1		NA																	0				skin(2)|ovary(1)	3						c.(2029-2031)GCC>CCC		protocadherin beta 13 precursor							63.0	70.0	67.0					5																	140595724		2175	4240	6415	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595724G>C	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2029G>C	5.37:g.140595724G>C	ENSP00000345491:p.Ala677Pro						p.A677P	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2216	+			677			Extracellular (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.2029G>C	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	12.75	2.031880	0.35797	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.51574	0.7	3.11	-0.189	0.13260	.	.	.	.	.	T	0.34542	0.0901	L	0.45285	1.41	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.27606	-1.0069	9	0.39692	T	0.17	.	5.0006	0.14262	0.2996:0.1586:0.5417:0.0	.	677	Q9Y5F0	PCDBD_HUMAN	P	677;677;623	ENSP00000345491:A677P	ENSP00000345491:A677P	A	+	1	0	PCDHB13	140575908	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	0.242000	0.18087	0.410000	0.25675	-1.261000	0.01458	GCC		0.682	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		36	114	0	0	0	0	36	114				
TENM2	57451	broad.mit.edu	37	5	167673804	167673804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:167673804G>A	ENST00000518659.1	+	27	5899	c.5860G>A	c.(5860-5862)Gag>Aag	p.E1954K	TENM2_ENST00000520394.1_Missense_Mutation_p.E1715K|TENM2_ENST00000403607.2_Missense_Mutation_p.E1778K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1953K|TENM2_ENST00000519204.1_Missense_Mutation_p.E1833K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1954					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E1833Q(1)|p.E1787Q(1)|p.E1954Q(1)									GTATATATTTGAGTATGACTC	0.512																																						uc010jjd.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(5833-5835)GAG>AAG		odz, odd Oz/ten-m homolog 2							252.0	260.0	258.0					5																	167673804		2083	4209	6292	SO:0001583	missense	57451							g.chr5:167673804G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5860G>A	5.37:g.167673804G>A	ENSP00000429430:p.Glu1954Lys					ODZ2_uc003lzr.3_Missense_Mutation_p.E1715K|ODZ2_uc003lzt.3_Missense_Mutation_p.E1318K|ODZ2_uc010jje.2_Missense_Mutation_p.E1209K	p.E1945K	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	5833	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5833G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.237310	0.79800	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89746	-2.09;-2.08;-2.19;-2.53;-2.56	5.35	4.44	0.53790	.	0.045415	0.85682	D	0.000000	D	0.93035	0.7783	M	0.77616	2.38	0.58432	D	0.999994	P;P;P	0.52170	0.951;0.919;0.873	P;P;B	0.57425	0.82;0.665;0.291	D	0.93492	0.6836	10	0.62326	D	0.03	.	15.6277	0.76874	0.0:0.1381:0.8619:0.0	.	1953;1954;1715	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	K	1954;1953;1833;1715;1778	ENSP00000429430:E1954K;ENSP00000438635:E1953K;ENSP00000428964:E1833K;ENSP00000427874:E1715K;ENSP00000384905:E1778K	ENSP00000384905:E1778K	E	+	1	0	ODZ2	167606382	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.869000	0.99810	1.193000	0.43086	0.491000	0.48974	GAG		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		68	223	0	0	0	0	68	223				
HIST1H4F	8361	broad.mit.edu	37	6	26240713	26240713	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr6:26240713C>T	ENST00000377745.2	+	1	153	c.60C>T	c.(58-60)cgC>cgT	p.R20R		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	20					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGCGCCATCGCAAAGTGCTGC	0.537																																						uc003nhe.1		NA																	0					0						c.(58-60)CGC>CGT		histone cluster 1, H4f							49.0	48.0	49.0					6																	26240713		2203	4300	6503	SO:0001819	synonymous_variant	8361				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26240713C>T	M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"""Histones / Replication-dependent"""	4783	protein-coding gene	gene with protein product		602824	"""H4 histone family, member C"", ""histone 1, H4f"""	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.60C>T	6.37:g.26240713C>T							p.R20R	NM_003540	NP_003531	P62805	H4_HUMAN			1	60	+		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	20					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377745.2	37	c.60C>T	CCDS4598.1																																																																																				0.537	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040106.1	NM_003540		5	18	0	0	0	0	5	18				
HIST1H1B	3009	broad.mit.edu	37	6	27834874	27834874	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr6:27834874G>T	ENST00000331442.3	-	1	485	c.434C>A	c.(433-435)gCt>gAt	p.A145D		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	145					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CGCCCCTGCAGCCTTCTTGGC	0.617																																						uc003njx.2		NA																	0				large_intestine(2)|lung(1)	3						c.(433-435)GCT>GAT		histone cluster 1, H1b							95.0	111.0	106.0					6																	27834874		2203	4299	6502	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834874G>T	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.434C>A	6.37:g.27834874G>T	ENSP00000330074:p.Ala145Asp						p.A145D	NM_005322	NP_005313	P16401	H15_HUMAN			1	486	-			145					Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.434C>A	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958812	0.34565	.	.	ENSG00000184357	ENST00000331442	T	0.19105	2.17	5.19	5.19	0.71726	.	0.744563	0.12811	N	0.437170	T	0.05273	0.0140	N	0.08118	0	0.33976	D	0.647352	B	0.17667	0.023	B	0.17979	0.02	T	0.16689	-1.0394	10	0.66056	D	0.02	-2.8696	9.8296	0.40932	0.1571:0.0:0.8429:0.0	.	145	P16401	H15_HUMAN	D	145	ENSP00000330074:A145D	ENSP00000330074:A145D	A	-	2	0	HIST1H1B	27942853	0.634000	0.27190	0.284000	0.24805	0.075000	0.17131	3.847000	0.55895	2.600000	0.87896	0.655000	0.94253	GCT		0.617	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		41	192	1	0	9.85e-19	1.13e-18	41	192				
TCTE1	202500	broad.mit.edu	37	6	44254022	44254022	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr6:44254022C>T	ENST00000371505.4	-	3	647	c.525G>A	c.(523-525)gcG>gcA	p.A175A	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Silent_p.A22A|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Silent_p.A22A	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	175										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGAGGATCACCGCAGGGTCTG	0.652																																						uc003oxi.2		NA																	0				ovary(2)|skin(2)	4						c.(523-525)GCG>GCA		t-complex-associated testis expressed 1							44.0	36.0	39.0					6																	44254022		2202	4300	6502	SO:0001819	synonymous_variant	202500							g.chr6:44254022C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.525G>A	6.37:g.44254022C>T						SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.A175A	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	681	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		175					B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.525G>A	CCDS4910.1																																																																																				0.652	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		20	41	0	0	0	0	20	41				
GRM8	2918	broad.mit.edu	37	7	126746580	126746580	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr7:126746580C>T	ENST00000339582.2	-	3	1505	c.697G>A	c.(697-699)Gag>Aag	p.E233K	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.E233K|GRM8_ENST00000444921.2_Missense_Mutation_p.E233K|GRM8_ENST00000358373.3_Missense_Mutation_p.E233K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	233					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTGAAGGCCTCCACACCGCTC	0.498										HNSCC(24;0.065)																												uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(697-699)GAG>AAG		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						112.0	92.0	99.0					7																	126746580		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126746580C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.697G>A	7.37:g.126746580C>T	ENSP00000344173:p.Glu233Lys	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.E233K|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR	p.E233K	NM_000845	NP_000836	O00222	GRM8_HUMAN			2	1008	-		Prostate(267;0.186)	233			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.697G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888740	0.91814	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	4.97	4.97	0.65823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88388	0.6423	M	0.75884	2.315	0.80722	D	1	P;B	0.40534	0.72;0.119	B;B	0.41202	0.35;0.158	D	0.90361	0.4373	10	0.87932	D	0	.	17.2524	0.87046	0.0:1.0:0.0:0.0	.	233;233	O00222-2;O00222	.;GRM8_HUMAN	K	233;233;233;233;233;43	ENSP00000344173:E233K;ENSP00000409790:E233K;ENSP00000351142:E233K;ENSP00000385731:E233K;ENSP00000415522:E233K;ENSP00000418255:E43K	ENSP00000344173:E233K	E	-	1	0	GRM8	126533816	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.298000	0.77334	0.563000	0.77884	GAG		0.498	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			7	20	0	0	0	0	7	20				
TNKS	8658	broad.mit.edu	37	8	9605599	9605599	+	Silent	SNP	G	G	A	rs35491087		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:9605599G>A	ENST00000310430.6	+	18	2735	c.2709G>A	c.(2707-2709)gcG>gcA	p.A903A	TNKS_ENST00000518281.1_Silent_p.A666A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	903					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATAAGTGGGCGTTTACTCCCC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		17528	0.0		0.0	False		,,,				2504	0.001					uc003wss.2		NA																	0				lung(4)|ovary(2)|kidney(1)	7						c.(2707-2709)GCG>GCA		tankyrase, TRF1-interacting ankyrin-related							94.0	93.0	94.0					8																	9605599		2203	4300	6503	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9605599G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2709G>A	8.37:g.9605599G>A						TNKS_uc011kww.1_Silent_p.A666A|TNKS_uc010lrt.1_RNA	p.A903A	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	18	2714	+			903			ANK 15.		O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.2709G>A	CCDS5974.1																																																																																				0.473	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		8	31	0	0	0	0	8	31				
HR	55806	broad.mit.edu	37	8	21976769	21976769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:21976769C>T	ENST00000381418.4	-	15	4485	c.3005G>A	c.(3004-3006)gGg>gAg	p.G1002E	HR_ENST00000312841.8_Missense_Mutation_p.G1002E	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1002	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTTCTTGGTCCCCAGGTGTCC	0.597																																						uc003xas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(3004-3006)GGG>GAG		hairless protein isoform a							53.0	50.0	51.0					8																	21976769		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21976769C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.3005G>A	8.37:g.21976769C>T	ENSP00000370826:p.Gly1002Glu					HR_uc003xat.2_Missense_Mutation_p.G1002E	p.G1002E	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	15	3670	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	1002			JmjC.		Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.3005G>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879533	0.72294	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71579	-0.58;-0.58	5.0	5.0	0.66597	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.56097	D	0.000024	D	0.84884	0.5571	M	0.84433	2.695	0.47511	D	0.999443	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87338	0.2329	10	0.87932	D	0	-26.2376	13.7897	0.63133	0.0:1.0:0.0:0.0	.	1002;1002	O43593-2;O43593	.;HAIR_HUMAN	E	1002	ENSP00000370826:G1002E;ENSP00000326765:G1002E	ENSP00000326765:G1002E	G	-	2	0	HR	22032714	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.388000	0.52509	2.327000	0.79052	0.313000	0.20887	GGG		0.597	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			6	34	0	0	0	0	6	34				
ADAM28	10863	broad.mit.edu	37	8	24209561	24209561	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:24209561C>G	ENST00000265769.4	+	21	2350	c.2240C>G	c.(2239-2241)tCt>tGt	p.S747C	RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	747					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCCCCAGCCTCTTTTGTGAGT	0.408																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2		NA																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(2239-2241)TCT>TGT		ADAM metallopeptidase domain 28 isoform 1							112.0	110.0	111.0					8																	24209561		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24209561C>G	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.2240C>G	8.37:g.24209561C>G	ENSP00000265769:p.Ser747Cys					ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.S434C	p.S747C	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	21	2323	+		Prostate(55;0.0959)	747			Cytoplasmic (Potential).		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.2240C>G	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621036	0.28889	.	.	ENSG00000042980	ENST00000265769	T	0.01787	4.64	4.1	2.96	0.34315	.	.	.	.	.	T	0.03477	0.0100	L	0.44542	1.39	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.52710	0.707;0.707	T	0.56438	-0.7979	9	0.51188	T	0.08	.	8.7041	0.34343	0.3622:0.6378:0.0:0.0	.	747;747	B2RMV5;Q9UKQ2	.;ADA28_HUMAN	C	747	ENSP00000265769:S747C	ENSP00000265769:S747C	S	+	2	0	ADAM28	24265506	0.005000	0.15991	0.994000	0.49952	0.114000	0.19823	1.026000	0.30103	0.948000	0.37687	0.467000	0.42956	TCT		0.408	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		9	58	0	0	0	0	9	58				
RBM12B	389677	broad.mit.edu	37	8	94746535	94746535	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:94746535G>A	ENST00000399300.2	-	3	2317	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	702							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCTCTGGGGGCCGCCTGAAG	0.642																																						uc003yfz.2		NA																	0					0						c.(2104-2106)CCC>TCC		RNA binding motif protein 12B							99.0	104.0	103.0					8																	94746535		1867	4082	5949	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94746535G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2104C>T	8.37:g.94746535G>A	ENSP00000382239:p.Pro702Ser						p.P702S	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2297	-	Breast(36;4.14e-07)		702					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2104C>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.334972	0.41398	.	.	ENSG00000183808	ENST00000399300	T	0.06768	3.26	4.7	1.97	0.26223	.	.	.	.	.	T	0.05686	0.0149	N	0.19112	0.55	0.19300	N	0.999971	B	0.13145	0.007	B	0.12156	0.007	T	0.40683	-0.9550	9	0.30854	T	0.27	3.2923	8.5033	0.33173	0.2596:0.0:0.7404:0.0	.	702	Q8IXT5	RB12B_HUMAN	S	702	ENSP00000382239:P702S	ENSP00000382239:P702S	P	-	1	0	RBM12B	94815711	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-0.016000	0.12613	0.469000	0.27268	0.655000	0.94253	CCC		0.642	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		34	124	0	0	0	0	34	124				
KCNQ3	3786	broad.mit.edu	37	8	133141591	133141591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:133141591G>A	ENST00000388996.4	-	15	2957	c.2537C>T	c.(2536-2538)aCg>aTg	p.T846M	KCNQ3_ENST00000519445.1_Missense_Mutation_p.T834M|KCNQ3_ENST00000521134.1_Missense_Mutation_p.T726M	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	846					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCCGCTGGGCGTGAAGGGGTC	0.572																																						uc003ytj.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2536-2538)ACG>ATG		potassium voltage-gated channel KQT-like protein							79.0	66.0	70.0					8																	133141591		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133141591G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2537C>T	8.37:g.133141591G>A	ENSP00000373648:p.Thr846Met					KCNQ3_uc010mdt.2_Missense_Mutation_p.T834M|uc003yti.2_5'Flank	p.T846M	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2762	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		846					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.2537C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554545	0.86231	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	T;T;T	0.53423	0.62;0.62;0.62	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67031	-0.5773	10	0.72032	D	0.01	-18.1448	18.9552	0.92655	0.0:0.0:1.0:0.0	.	834;846	E7ET42;O43525	.;KCNQ3_HUMAN	M	846;726;834;823;725	ENSP00000373648:T846M;ENSP00000429799:T726M;ENSP00000428790:T834M	ENSP00000373648:T846M	T	-	2	0	KCNQ3	133210773	1.000000	0.71417	0.966000	0.40874	0.955000	0.61496	9.225000	0.95219	2.714000	0.92807	0.655000	0.94253	ACG		0.572	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		8	34	0	0	0	0	8	34				
OPLAH	26873	broad.mit.edu	37	8	145107418	145107418	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:145107418G>A	ENST00000426825.1	-	23	3318	c.3237C>T	c.(3235-3237)aaC>aaT	p.N1079N	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1079					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGTGAGCACGTTGCCGCCCA	0.771																																						uc003zar.3		NA																	0					0						c.(3235-3237)AAC>AAT		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						5.0	6.0	6.0					8																	145107418		1791	3859	5650	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145107418G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3237C>T	8.37:g.145107418G>A							p.N1079N	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		23	3319	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1079					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.3237C>T																																																																																					0.771	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		3	7	0	0	0	0	3	7				
DOCK8	81704	broad.mit.edu	37	9	382632	382632	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:382632G>A	ENST00000453981.1	+	22	2837	c.2725G>A	c.(2725-2727)Gcg>Acg	p.A909T	DOCK8_ENST00000469391.1_Missense_Mutation_p.A841T|DOCK8_ENST00000432829.2_Missense_Mutation_p.A841T|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376T|DOCK8_ENST00000382331.1_Missense_Mutation_p.A211T			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	909					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCCAGACCTCGCGGGGACACA	0.542																																						uc003zgf.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(2725-2727)GCG>ACG		dedicator of cytokinesis 8							64.0	57.0	59.0					9																	382632		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:382632G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2725G>A	9.37:g.382632G>A	ENSP00000408464:p.Ala909Thr					DOCK8_uc010mgu.2_Missense_Mutation_p.A211T|DOCK8_uc010mgv.2_Missense_Mutation_p.A841T|DOCK8_uc010mgw.1_Missense_Mutation_p.A211T|DOCK8_uc003zgk.2_Missense_Mutation_p.A367T	p.A909T	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	22	2837	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	909					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.2725G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	9.620	1.133644	0.21123	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.64	1.65	0.23941	.	0.517985	0.20394	N	0.093194	T	0.10937	0.0267	N	0.05230	-0.09	0.09310	N	1	B;B;B;B	0.13594	0.008;0.0;0.001;0.0	B;B;B;B	0.11329	0.006;0.001;0.002;0.0	T	0.31806	-0.9930	10	0.09843	T	0.71	.	4.6914	0.12783	0.3581:0.0:0.4986:0.1432	.	211;841;376;909	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	T	909;909;841;841;211;376	ENSP00000408464:A909T;ENSP00000394888:A841T;ENSP00000419438:A841T;ENSP00000371768:A211T;ENSP00000371766:A376T	ENSP00000287364:A909T	A	+	1	0	DOCK8	372632	0.000000	0.05858	0.003000	0.11579	0.373000	0.29922	-0.086000	0.11233	0.292000	0.22492	0.655000	0.94253	GCG		0.542	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		7	30	0	0	0	0	7	30				
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(33)|Deletion - Frameshift(5)|Substitution - Missense(3)	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(285)|skin(182)|central_nervous_system(168)|lung(150)|urinary_tract(92)|bone(74)|upper_aerodigestive_tract(64)|soft_tissue(57)|oesophagus(53)|pleura(51)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM060208	CDKN2A	M	rs121913389	c.(328-330)TGG>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							18.0	21.0	20.0					9																	21971028		2198	4295	6493	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971028C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.330G>A	9.37:g.21971028C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R	p.W110*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	542	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.330G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.852087|6.852087	0.97885|0.97885	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.87412|.	-2.25;-2.15|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.38217|.	N|.	0.001771|.	T|.	0.37839|.	0.1018|.	L|L	0.32530|0.32530	0.975|0.975	0.30154|0.30154	N|N	0.80279|0.80279	D|.	0.58620|.	0.983|.	P|.	0.60117|.	0.869|.	T|.	0.38887|.	-0.9640|.	10|.	0.87932|0.42905	D|T	0|0.14	-14.7138|-14.7138	8.0617|8.0617	0.30638|0.30638	0.1597:0.7616:0.0:0.0788|0.1597:0.7616:0.0:0.0788	.|.	166|.	Q8N726|.	CD2A2_HUMAN|.	R|X	166;125|110	ENSP00000355153:G166R;ENSP00000432664:G125R|.	ENSP00000355153:G166R|ENSP00000307101:W110X	G|W	-|-	1|3	0|0	CDKN2A|CDKN2A	21961028|21961028	0.088000|0.088000	0.21588|0.21588	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	0.422000|0.422000	0.21296|0.21296	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	17	0	0	0	0	10	17				
CCDC107	203260	broad.mit.edu	37	9	35658653	35658653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:35658653G>A	ENST00000426546.2	+	2	253	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	CCDC107_ENST00000327351.2_Missense_Mutation_p.A63T|ARHGEF39_ENST00000490970.1_5'Flank|CCDC107_ENST00000378409.3_Missense_Mutation_p.A63T|CCDC107_ENST00000378406.1_Missense_Mutation_p.A63T|RMRP_ENST00000602361.1_lincRNA|CCDC107_ENST00000421582.2_Missense_Mutation_p.A63T|CCDC107_ENST00000378407.3_Missense_Mutation_p.A63T	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	63						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCGGACCCGGGCCGGGTCGCT	0.716																																						uc011lox.1		NA																	0					0						c.(187-189)GCC>ACC		coiled-coil domain containing 107 precursor							8.0	11.0	10.0					9																	35658653		1926	4006	5932	SO:0001583	missense	203260					integral to membrane		g.chr9:35658653G>A	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.187G>A	9.37:g.35658653G>A	ENSP00000414964:p.Ala63Thr					RMRP_uc003zxh.1_5'Flank|CCDC107_uc010mkx.1_Missense_Mutation_p.A63T|CCDC107_uc011loy.1_Missense_Mutation_p.A63T|CCDC107_uc003zxj.2_Missense_Mutation_p.A63T|CCDC107_uc003zxk.2_Missense_Mutation_p.A63T	p.A63T	NM_174923	NP_777583	Q8WV48	CC107_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	253	+	all_epithelial(49;0.217)		63					A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	ENST00000426546.2	37	c.187G>A	CCDS6583.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136838	0.37728	.	.	ENSG00000159884	ENST00000378407;ENST00000378406;ENST00000426546;ENST00000327351;ENST00000421582;ENST00000378409	T;T	0.39406	1.49;1.08	4.9	0.643	0.17770	.	0.982590	0.08299	N	0.967188	T	0.31482	0.0798	L	0.39898	1.24	0.09310	N	1	B;B;B;B;B	0.19583	0.017;0.017;0.017;0.037;0.002	B;B;B;B;B	0.21917	0.012;0.012;0.012;0.037;0.008	T	0.36696	-0.9737	10	0.62326	D	0.03	0.6103	3.394	0.07299	0.0945:0.3401:0.4074:0.158	.	63;63;63;63;63	F8W8S5;Q8WV48;A6XND6;Q8WV48-4;Q8WV48-2	.;CC107_HUMAN;.;.;.	T	63	ENSP00000414964:A63T;ENSP00000367665:A63T	ENSP00000330327:A63T	A	+	1	0	CCDC107	35648653	0.090000	0.21635	0.138000	0.22173	0.014000	0.08584	0.799000	0.27028	0.249000	0.21456	-0.157000	0.13467	GCC		0.716	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		8	13	0	0	0	0	8	13				
ZNF189	7743	broad.mit.edu	37	9	104170879	104170879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:104170879G>A	ENST00000339664.2	+	3	958	c.829G>A	c.(829-831)Gag>Aag	p.E277K	ZNF189_ENST00000374861.3_Missense_Mutation_p.E263K|ZNF189_ENST00000259395.4_Missense_Mutation_p.E235K	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACACCTTATTGAGCATCAAAG	0.393																																						uc004bbh.1		NA																	0				ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(829-831)GAG>AAG		zinc finger protein 189 isoform 1							170.0	173.0	172.0					9																	104170879		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170879G>A	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.829G>A	9.37:g.104170879G>A	ENSP00000342019:p.Glu277Lys					ZNF189_uc004bbg.1_Missense_Mutation_p.E235K|ZNF189_uc004bbi.1_Missense_Mutation_p.E263K|ZNF189_uc011lvk.1_Missense_Mutation_p.E262K	p.E277K	NM_003452	NP_003443	O75820	ZN189_HUMAN			3	1105	+		Acute lymphoblastic leukemia(62;0.0559)	277			C2H2-type 5.		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.829G>A	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	1.651	-0.513974	0.04200	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.08193	3.12;3.12;3.12	4.79	3.88	0.44766	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.133460	0.34411	N	0.003995	T	0.02418	0.0074	N	0.03050	-0.425	0.30437	N	0.77657	B;B;B	0.30542	0.116;0.284;0.058	B;B;B	0.24394	0.027;0.053;0.053	T	0.32428	-0.9907	10	0.05833	T	0.94	.	6.7602	0.23536	0.0917:0.1804:0.7279:0.0	.	262;263;277	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	K	263;277;235	ENSP00000363995:E263K;ENSP00000342019:E277K;ENSP00000259395:E235K	ENSP00000259395:E235K	E	+	1	0	ZNF189	103210700	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-1.372000	0.02570	1.603000	0.50134	0.655000	0.94253	GAG		0.393	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		55	106	0	0	0	0	55	106				
PSMB7	5695	broad.mit.edu	37	9	127177670	127177670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:127177670C>T	ENST00000259457.3	-	1	48	c.35G>A	c.(34-36)gGa>gAa	p.G12E	PSMB7_ENST00000498485.1_5'Flank|PSMB7_ENST00000536392.1_Missense_Mutation_p.G12E	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						AGAGAAGCCTCCAACTGGTGG	0.607											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004boj.2		NA																	0					0						c.(34-36)GGA>GAA		proteasome beta 7 subunit proprotein							45.0	46.0	45.0					9																	127177670		2203	4300	6503	SO:0001583	missense	5695				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr9:127177670C>T	AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"""Proteasome (prosome, macropain) subunits"""	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.35G>A	9.37:g.127177670C>T	ENSP00000259457:p.Gly12Glu		OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1555	PSMB7_uc010mwm.2_Missense_Mutation_p.G12E	p.G12E	NM_002799	NP_002790	Q99436	PSB7_HUMAN			1	52	-			12					B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	Missense_Mutation	SNP	ENST00000259457.3	37	c.35G>A	CCDS6855.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886332	0.91814	.	.	ENSG00000136930	ENST00000259457;ENST00000536392;ENST00000441097	T;T;T	0.34275	1.37;1.37;1.37	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	M	0.84156	2.68	0.80722	D	1	D;P	0.62365	0.991;0.95	P;P	0.61592	0.891;0.835	T	0.62618	-0.6816	10	0.52906	T	0.07	-14.6076	17.5987	0.88020	0.0:1.0:0.0:0.0	.	12;12	B4E0P1;Q99436	.;PSB7_HUMAN	E	12	ENSP00000259457:G12E;ENSP00000440247:G12E;ENSP00000393157:G12E	ENSP00000259457:G12E	G	-	2	0	PSMB7	126217491	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.680000	0.61656	2.941000	0.99782	0.655000	0.94253	GGA		0.607	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055525.1	NM_002799		7	13	0	0	0	0	7	13				
NHS	4810	broad.mit.edu	37	X	17744146	17744146	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:17744146G>A	ENST00000380060.3	+	6	2195	c.1857G>A	c.(1855-1857)acG>acA	p.T619T	NHS_ENST00000398097.3_Silent_p.T463T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	640					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCAGCTCCACGTGCCCCTCGC	0.582													G|||	1	0.000264901	0.0	0.0014	3775	,	,		14625	0.0		0.0	False		,,,				2504	0.0					uc004cxx.2		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1855-1857)ACG>ACA		Nance-Horan syndrome protein isoform 1							102.0	85.0	91.0					X																	17744146		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17744146G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1857G>A	X.37:g.17744146G>A						NHS_uc011mix.1_Silent_p.T640T|NHS_uc004cxy.2_Silent_p.T463T|NHS_uc004cxz.2_Silent_p.T442T|NHS_uc004cya.2_Silent_p.T342T	p.T619T	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	2195	+	Hepatocellular(33;0.183)		619					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.1857G>A	CCDS14181.1																																																																																				0.582	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		26	100	0	0	0	0	26	100				
ZCCHC13	389874	broad.mit.edu	37	X	73524270	73524270	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:73524270G>T	ENST00000339534.2	+	1	246	c.169G>T	c.(169-171)Gct>Tct	p.A57S		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	57							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						CGGTCGTAATGCTAAGAACTG	0.527																																						uc004ebs.3		NA																	0					0						c.(169-171)GCT>TCT		zinc finger, CCHC domain containing 13							142.0	94.0	110.0					X																	73524270		2203	4300	6503	SO:0001583	missense	389874						nucleic acid binding|zinc ion binding	g.chrX:73524270G>T	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.169G>T	X.37:g.73524270G>T	ENSP00000345633:p.Ala57Ser						p.A57S	NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN			1	246	+			57			CCHC-type 2; degenerate.			Missense_Mutation	SNP	ENST00000339534.2	37	c.169G>T	CCDS14425.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795534	0.31777	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	4.32	0.51571	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.158587	0.40728	U	0.001022	T	0.31167	0.0788	L	0.43152	1.355	0.09310	N	0.999995	B	0.32573	0.376	B	0.29663	0.105	T	0.15407	-1.0438	9	0.10377	T	0.69	.	13.7243	0.62748	0.0:0.0:1.0:0.0	.	57	Q8WW36	ZCH13_HUMAN	S	57	.	ENSP00000345633:A57S	A	+	1	0	ZCCHC13	73440995	0.746000	0.28272	0.006000	0.13384	0.051000	0.14879	2.991000	0.49409	2.409000	0.81822	0.529000	0.55759	GCT		0.527	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303		6	27	1	0	0.00116845	0.00124669	6	27				
RNF128	79589	broad.mit.edu	37	X	105937342	105937342	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:105937342A>G	ENST00000324342.3	+	1	275	c.110A>G	c.(109-111)tAc>tGc	p.Y37C		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	52					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTGACTTATTACAATGAAACC	0.388																																						uc004emk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(109-111)TAC>TGC		ring finger protein 128 isoform 2							152.0	133.0	140.0					X																	105937342		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937342A>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.110A>G	X.37:g.105937342A>G	ENSP00000316127:p.Tyr37Cys						p.Y37C	NM_024539	NP_078815	Q8TEB7	RN128_HUMAN			1	275	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000324342.3	37	c.110A>G	CCDS14520.1	.	.	.	.	.	.	.	.	.	.	A	7.944	0.743362	0.15642	.	.	ENSG00000133135	ENST00000418562;ENST00000324342	T;T	0.30182	1.54;2.92	6.03	-0.00556	0.14017	.	.	.	.	.	T	0.22282	0.0537	N	0.08118	0	0.37038	D	0.897006	P	0.34684	0.463	P	0.48488	0.579	T	0.26395	-1.0104	9	0.38643	T	0.18	.	7.0004	0.24807	0.3154:0.1152:0.0:0.5694	.	37	Q8TEB7-2	.	C	10;37	ENSP00000412610:Y10C;ENSP00000316127:Y37C	ENSP00000316127:Y37C	Y	+	2	0	RNF128	105823998	0.943000	0.32029	0.195000	0.23364	0.902000	0.53008	0.688000	0.25422	0.295000	0.22570	0.486000	0.48141	TAC		0.388	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		24	90	0	0	0	0	24	90				
AFF2	2334	broad.mit.edu	37	X	148055022	148055022	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:148055022G>A	ENST00000370460.2	+	16	3768	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M	AFF2_ENST00000286437.5_Missense_Mutation_p.V738M|AFF2_ENST00000342251.3_Missense_Mutation_p.V1064M|AFF2_ENST00000370457.5_Missense_Mutation_p.V1062M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1097					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)					TGGCAAAGCTGTGAATTATGC	0.463																																						uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(3289-3291)GTG>ATG		fragile X mental retardation 2							181.0	150.0	161.0					X																	148055022		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148055022G>A	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.3289G>A	X.37:g.148055022G>A	ENSP00000359489:p.Val1097Met					AFF2_uc004fcq.2_Missense_Mutation_p.V1087M|AFF2_uc004fcr.2_Missense_Mutation_p.V1058M|AFF2_uc011mxb.1_Missense_Mutation_p.V1062M|AFF2_uc004fcs.2_Missense_Mutation_p.V1062M|AFF2_uc011mxc.1_Missense_Mutation_p.V738M	p.V1097M	NM_002025	NP_002016	P51816	AFF2_HUMAN			16	3768	+	Acute lymphoblastic leukemia(192;6.56e-05)		1097					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3289G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086096	0.76642	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.72	4.85	0.62838	.	0.072136	0.52532	D	0.000061	T	0.79493	0.4455	M	0.75777	2.31	0.53005	D	0.999968	P;D;D;D;D;D	0.76494	0.69;0.997;0.998;0.999;0.999;0.999	P;D;D;D;D;D	0.79108	0.564;0.992;0.988;0.987;0.987;0.992	T	0.77019	-0.2743	10	0.26408	T	0.33	.	14.2049	0.65728	0.0749:0.0:0.9251:0.0	.	738;1062;1062;1058;1087;1097	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	M	1097;1062;1064;738	ENSP00000359489:V1097M;ENSP00000359486:V1062M;ENSP00000345459:V1064M;ENSP00000286437:V738M	ENSP00000286437:V738M	V	+	1	0	AFF2	147862711	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	6.784000	0.75084	2.404000	0.81709	0.600000	0.82982	GTG		0.463	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		25	85	0	0	0	0	25	85				
APOLD1	81575	broad.mit.edu	37	12	12940351	12940353	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:12940351_12940353delTCT	ENST00000326765.6	+	2	675_677	c.605_607delTCT	c.(604-609)gtcttc>gtc	p.F204del	APOLD1_ENST00000356591.4_In_Frame_Del_p.F173del	NM_001130415.1	NP_001123887.1	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	204					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|endothelial cell activation (GO:0042118)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|regulation of endothelial cell differentiation (GO:0045601)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		TACTTCATCGTCTTCTTTGGCTC	0.616																																						uc001rau.3		NA																	0				ovary(1)	1						c.(604-609)GTCTTC>GTC		apolipoprotein L domain containing 1 isoform 1																																				SO:0001651	inframe_deletion	81575				angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding	g.chr12:12940351_12940353delTCT	AL136783	CCDS8654.1, CCDS44833.1	12p13.2	2006-02-03	2006-01-23		ENSG00000178878	ENSG00000178878			25268	protein-coding gene	gene with protein product		612456				11230166	Standard	NM_030817		Approved	FLJ25138, DKFZP434F0318	uc001rau.4	Q96LR9	OTTHUMG00000153561	ENST00000326765.6:c.605_607delTCT	12.37:g.12940354_12940356delTCT	ENSP00000324277:p.Phe204del					DDX47_uc001rav.2_Intron|APOLD1_uc001raw.3_In_Frame_Del_p.F173del	p.F204del	NM_001130415	NP_001123887	Q96LR9	APLD1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)	2	689_691	+		Prostate(47;0.0632)	204			Helical; (Potential).		Q8IVR2|Q9H0I5	In_Frame_Del	DEL	ENST00000326765.6	37	c.605_607delTCT	CCDS44833.1																																																																																				0.616	APOLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331627.1	NM_030817		45	129	NA	NA	NA	NA	45	129	---	---	---	---
MORC4	79710	broad.mit.edu	37	X	106228467	106228468	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:106228467_106228468insT	ENST00000355610.4	-	5	806_807	c.532_533insA	c.(532-534)atgfs	p.M178fs	MORC4_ENST00000255495.7_Frame_Shift_Ins_p.M178fs|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	178						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGTAATAATCATTTTTTGTAAA	0.361																																						uc004emu.3		NA																	0				ovary(1)	1						c.(532-534)ATGfs		zinc finger, CW type with coiled-coil domain 2																																				SO:0001589	frameshift_variant	79710						ATP binding|zinc ion binding	g.chrX:106228467_106228468insT	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.533dupA	X.37:g.106228473_106228473dupT	ENSP00000347821:p.Met178fs					MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Frame_Shift_Ins_p.M178fs|MORC4_uc004emw.3_Intron	p.M178fs	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			5	775_776	-			178					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Frame_Shift_Ins	INS	ENST00000355610.4	37	c.532_533insA	CCDS14525.2																																																																																				0.361	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		15	54	NA	NA	NA	NA	15	54	---	---	---	---
