#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CNKSR1	10256	broad.mit.edu	37	1	26507021	26507021	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:26507021C>G	ENST00000374253.5	+	2	169	c.130C>G	c.(130-132)Caa>Gaa	p.Q44E	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.Q44E|CNKSR1_ENST00000480348.2_3'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	44	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTGCCCCCAAAGCCTCGA	0.622																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(130-132)Caa>Gaa		Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.							64.0	69.0	67.0					1																	26507021		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26507021C>G	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.130C>G	1.37:g.26507021C>G	ENSP00000363371:p.Gln44Glu					CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.Q44E|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	p.Q44E	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	1	188	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	44			SAM.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.130C>G		.	.	.	.	.	.	.	.	.	.	C	13.00	2.106066	0.37145	.	.	ENSG00000142675	ENST00000361530;ENST00000422547;ENST00000374253	T;T	0.41065	1.01;1.01	5.0	4.09	0.47781	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.571210	0.19138	N	0.121769	T	0.32406	0.0828	L	0.28608	0.87	0.80722	D	1	B;B	0.16802	0.019;0.019	B;B	0.22152	0.038;0.023	T	0.08513	-1.0718	10	0.36615	T	0.2	-4.6009	12.4729	0.55797	0.0:0.9179:0.0:0.0821	.	44;44	Q969H4;Q53GM7	CNKR1_HUMAN;.	E	44	ENSP00000354609:Q44E;ENSP00000363371:Q44E	ENSP00000354609:Q44E	Q	+	1	0	CNKSR1	26379608	0.325000	0.24660	0.817000	0.32601	0.375000	0.29983	2.755000	0.47540	1.359000	0.45940	0.655000	0.94253	CAA		0.622	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		7	93	0	0	0	1	0	7	93				
ATXN2	6311	broad.mit.edu	37	12	111893961	111893961	+	Missense_Mutation	SNP	T	T	A	rs376508232		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:111893961T>A	ENST00000377617.3	-	23	3777	c.3616A>T	c.(3616-3618)Aca>Tca	p.T1206S	ATXN2_ENST00000608853.1_Missense_Mutation_p.T1046S|ATXN2_ENST00000542287.2_Missense_Mutation_p.T941S|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Missense_Mutation_p.T899S|ATXN2_ENST00000389153.4_Missense_Mutation_p.T943S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1206					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GAGGCAGGTGTCATGGAGGGT	0.587																																						uc001tsj.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3616-3618)Aca>Tca		Homo sapiens ataxin 2 (ATXN2), mRNA.							311.0	272.0	285.0					12																	111893961		2203	4300	6503	SO:0001583	missense	6311				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding	g.chr12:111893961T>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3616A>T	12.37:g.111893961T>A	ENSP00000366843:p.Thr1206Ser					ATXN2_uc001tsh.3_Missense_Mutation_p.T941S|ATXN2_uc001tsi.3_Missense_Mutation_p.T899S|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Missense_Mutation_p.T207S	p.T1206S	NM_002973	NP_002964	Q99700	ATX2_HUMAN			22	3778	-			1206					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3616A>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.151881	0.78001	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	T	0.70282	-0.47	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.997;0.993;0.999;0.998	D;D;D;D;D	0.80764	0.987;0.97;0.956;0.994;0.987	T	0.66316	-0.5954	10	0.07325	T	0.83	-11.9859	16.4101	0.83708	0.0:0.0:0.0:1.0	.	207;1206;899;941;943	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	S	261;943;1206;207;941;899;131	ENSP00000366843:T1206S	ENSP00000366843:T1206S	T	-	1	0	ATXN2	110378344	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.345000	0.79337	2.280000	0.76307	0.460000	0.39030	ACA		0.587	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		98	126	0	0	0	1	0	98	126				
TTC27	55622	broad.mit.edu	37	2	33036256	33036256	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:33036256G>A	ENST00000317907.4	+	17	2395	c.2164G>A	c.(2164-2166)Ggg>Agg	p.G722R		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	722										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ATATGGAAATGGGCAGAGTGA	0.433																																						uc002rom.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2164-2166)Ggg>Agg		Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.							101.0	104.0	103.0					2																	33036256		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:33036256G>A	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2164G>A	2.37:g.33036256G>A	ENSP00000313953:p.Gly722Arg					TTC27_uc010ymx.2_Missense_Mutation_p.G672R	p.G722R	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN			16	2437	+			722					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.2164G>A	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666117	0.67700	.	.	ENSG00000018699	ENST00000317907	T	0.59224	0.28	5.22	5.22	0.72569	.	0.048626	0.85682	D	0.000000	T	0.68421	0.2999	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.60042	-0.7340	10	0.10111	T	0.7	-18.5207	18.9912	0.92793	0.0:0.0:1.0:0.0	.	722	Q6P3X3	TTC27_HUMAN	R	722	ENSP00000313953:G722R	ENSP00000313953:G722R	G	+	1	0	TTC27	32889760	1.000000	0.71417	0.987000	0.45799	0.373000	0.29922	7.753000	0.85153	2.708000	0.92522	0.650000	0.86243	GGG		0.433	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		13	16	0	0	0	1	0	13	16				
NAP1L1	4673	broad.mit.edu	37	12	76444373	76444373	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:76444373G>A	ENST00000261182.8	-	12	1483	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	NAP1L1_ENST00000544816.1_Missense_Mutation_p.R150C|NAP1L1_ENST00000393263.3_Missense_Mutation_p.R333C|NAP1L1_ENST00000535020.2_Missense_Mutation_p.R333C|NAP1L1_ENST00000548044.1_Missense_Mutation_p.R292C|NAP1L1_ENST00000549596.1_Missense_Mutation_p.R333C|NAP1L1_ENST00000547773.1_Missense_Mutation_p.R270C|NAP1L1_ENST00000431879.3_Missense_Mutation_p.R265C|NAP1L1_ENST00000547993.1_Missense_Mutation_p.R150C|NAP1L1_ENST00000552342.1_Missense_Mutation_p.R344C|NAP1L1_ENST00000542344.1_Missense_Mutation_p.R291C	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	333					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GGGATTATACGCTCACGTAAA	0.343																																						uc001sxw.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(997-999)Cgt>Tgt		Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.							77.0	74.0	75.0					12																	76444373		2203	4300	6503	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76444373G>A		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.997C>T	12.37:g.76444373G>A	ENSP00000261182:p.Arg333Cys					NAP1L1_uc001sxz.2_Missense_Mutation_p.R264C|NAP1L1_uc010stz.1_Missense_Mutation_p.R150C|NAP1L1_uc001sxx.2_Missense_Mutation_p.R333C|NAP1L1_uc010sty.1_Missense_Mutation_p.R290C|NAP1L1_uc010sua.1_Missense_Mutation_p.R333C|NAP1L1_uc001syb.3_Missense_Mutation_p.R333C	p.R333C	NM_139207	NP_631946	P55209	NP1L1_HUMAN			11	1409	-		Colorectal(145;0.09)	333					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.997C>T	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687893	0.68271	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044	T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.65	5.65	0.86999	.	0.048459	0.85682	N	0.000000	T	0.49864	0.1582	L	0.49455	1.56	0.80722	D	1	B;B;B;B;B;B;B	0.33413	0.124;0.411;0.144;0.174;0.051;0.215;0.389	B;B;B;B;B;B;B	0.36244	0.092;0.12;0.068;0.12;0.22;0.1;0.083	T	0.52465	-0.8572	10	0.87932	D	0	.	19.7278	0.96172	0.0:0.0:1.0:0.0	.	333;291;344;333;265;270;333	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	C	333;327;333;265;270;150;291;333;333;150;344;292	ENSP00000261182:R333C;ENSP00000450236:R327C;ENSP00000376947:R333C;ENSP00000409795:R265C;ENSP00000448167:R270C;ENSP00000437507:R150C;ENSP00000444759:R291C;ENSP00000445008:R333C;ENSP00000447793:R333C;ENSP00000448007:R150C;ENSP00000447196:R344C;ENSP00000449649:R292C	ENSP00000261182:R333C	R	-	1	0	NAP1L1	74730640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.626000	0.74253	2.656000	0.90262	0.591000	0.81541	CGT		0.343	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		15	20	0	0	0	1	0	15	20				
CDK15	65061	broad.mit.edu	37	2	202744823	202744823	+	Silent	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:202744823C>T	ENST00000374598.4	+	12	1131	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	CDK15_ENST00000450471.2_Silent_p.S377S|CDK15_ENST00000434439.1_Silent_p.S377S|CDK15_ENST00000260967.2_Silent_p.S326S|CDK15_ENST00000410091.3_Silent_p.S326S			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ACCGCGTCTCCGCCCAGGAAG	0.552																																						uc002uyt.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(1129-1131)tcC>tcT		Homo sapiens cyclin-dependent kinase 15 (CDK15), mRNA.	Adenosine triphosphate(DB00171)						86.0	76.0	79.0					2																	202744823		2203	4300	6503	SO:0001819	synonymous_variant	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202744823C>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1131C>T	2.37:g.202744823C>T						CDK15_uc002uys.2_Silent_p.S326S|CDK15_uc010ftn.1_Silent_p.S326S|CDK15_uc002uyu.1_Non-coding_Transcript	p.S377S	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			11	1180	+			377			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	37	c.1131C>T																																																																																					0.552	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			7	65	0	0	0	1	0	7	65				
U2AF2	11338	broad.mit.edu	37	19	56166505	56166505	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:56166505A>G	ENST00000308924.4	+	1	75	c.35A>G	c.(34-36)aAc>aGc	p.N12S	U2AF2_ENST00000450554.2_Missense_Mutation_p.N12S			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	12	Required for interaction with PRPF19. {ECO:0000269|PubMed:21536736}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGGCAGCTCAACGAGAATAAA	0.682																																						uc002qlu.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(34-36)aAc>aGc		Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.							20.0	27.0	24.0					19																	56166505		2193	4277	6470	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding	g.chr19:56166505A>G	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.35A>G	19.37:g.56166505A>G	ENSP00000307863:p.Asn12Ser					U2AF2_uc002qlt.3_Missense_Mutation_p.N12S	p.N12S	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	0	1090	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	12					Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.35A>G	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	A	3.081	-0.189060	0.06299	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.08984	3.03;3.05	3.58	3.58	0.41010	.	0.148244	0.41396	D	0.000887	T	0.02533	0.0077	N	0.01168	-0.975	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.38735	-0.9647	10	0.07030	T	0.85	-16.5984	11.6025	0.51012	1.0:0.0:0.0:0.0	.	12;12	P26368;P26368-2	U2AF2_HUMAN;.	S	12	ENSP00000307863:N12S;ENSP00000388475:N12S	ENSP00000307863:N12S	N	+	2	0	U2AF2	60858317	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.152000	0.50677	1.639000	0.50556	0.402000	0.26972	AAC		0.682	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		8	34	0	0	0	1	0	8	34				
FZD8	8325	broad.mit.edu	37	10	35929590	35929590	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr10:35929590C>A	ENST00000374694.1	-	1	772	c.768G>T	c.(766-768)caG>caT	p.Q256H	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	256					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGTTAGCGATCTGGCCTGTCT	0.682																																						uc001iyz.1																			0		p.G255G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(766-768)caG>caT		Homo sapiens frizzled family receptor 8 (FZD8), mRNA.							42.0	41.0	41.0					10																	35929590		2202	4300	6502	SO:0001583	missense	8325				T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929590C>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.768G>T	10.37:g.35929590C>A	ENSP00000363826:p.Gln256His						p.Q256H	NM_031866	NP_114072	Q9H461	FZD8_HUMAN			0	773	-			256						Missense_Mutation	SNP	ENST00000374694.1	37	c.768G>T	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344727	0.24426	.	.	ENSG00000177283	ENST00000374694	T	0.80994	-1.44	2.6	2.6	0.31112	.	0.079813	0.51477	U	0.000093	T	0.70727	0.3257	L	0.32530	0.975	0.39784	D	0.972334	B	0.21520	0.057	B	0.24269	0.052	T	0.70622	-0.4821	10	0.46703	T	0.11	.	12.2947	0.54838	0.0:1.0:0.0:0.0	.	256	Q9H461	FZD8_HUMAN	H	256	ENSP00000363826:Q256H	ENSP00000363826:Q256H	Q	-	3	2	FZD8	35969596	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.542000	0.36137	1.458000	0.47871	0.289000	0.19496	CAG		0.682	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		26	23	0	0	0	1	0	26	23				
HNRNPDL	9987	broad.mit.edu	37	4	83350530	83350530	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:83350530G>A	ENST00000295470.5	-	1	489	c.314C>T	c.(313-315)aCc>aTc	p.T105I	HNRNPDL_ENST00000349655.4_5'UTR|ENOPH1_ENST00000509635.1_5'Flank|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.T105I|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000514511.1_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	105					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CGCAGTCCGGGTCGCGGCAGC	0.622																																						uc003hmr.3																			0				breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(313-315)aCc>aTc		Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.							46.0	57.0	54.0					4																	83350530		2203	4300	6503	SO:0001583	missense	9987				RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83350530G>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.314C>T	4.37:g.83350530G>A	ENSP00000295470:p.Thr105Ile					ENOPH1_uc003hmv.3_5'Flank|ENOPH1_uc003hmx.3_5'Flank|HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.T105I	p.T105I	NM_031372	NP_112740	O14979	HNRDL_HUMAN			0	849	-		Hepatocellular(203;0.114)	105					Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.314C>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	g	15.76	2.928799	0.52759	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	T;T	0.68331	-0.32;-0.32	4.94	4.07	0.47477	.	0.000000	0.44688	D	0.000425	T	0.44117	0.1278	N	0.08118	0	0.39380	D	0.966246	B	0.28026	0.198	B	0.18263	0.021	T	0.44832	-0.9302	10	0.39692	T	0.17	.	12.7407	0.57251	0.0:0.1659:0.8341:0.0	.	105	O14979	HNRDL_HUMAN	I	105	ENSP00000295470:T105I;ENSP00000422040:T105I	ENSP00000295470:T105I	T	-	2	0	HNRPDL	83569554	0.533000	0.26354	0.073000	0.20177	0.526000	0.34562	0.653000	0.24902	1.405000	0.46838	0.585000	0.79938	ACC		0.622	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		19	59	0	0	0	1	0	19	59				
BTBD10	84280	broad.mit.edu	37	11	13441034	13441034	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:13441034G>A	ENST00000278174.5	-	4	802	c.557C>T	c.(556-558)aCt>aTt	p.T186I	BTBD10_ENST00000532261.1_5'Flank|BTBD10_ENST00000528120.1_Missense_Mutation_p.T138I|BTBD10_ENST00000530907.1_Missense_Mutation_p.T194I	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	186	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGGCTGTGCAGTAAAAATGGA	0.333																																						uc010rcl.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(580-582)aCt>aTt		Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.							116.0	120.0	119.0					11																	13441034		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13441034G>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.557C>T	11.37:g.13441034G>A	ENSP00000278174:p.Thr186Ile					BTBD10_uc001mkz.3_Missense_Mutation_p.T186I|BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Missense_Mutation_p.T138I|BTBD10_uc010rcn.2_Missense_Mutation_p.T155I|BTBD10_uc009ygo.3_Missense_Mutation_p.T138I	p.T194I	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	2	852	-			186			BTB.		B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.581C>T	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832572	0.71258	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	D;D;D	0.81821	-1.54;-1.54;-1.54	5.42	5.42	0.78866	BTB/POZ-like (1);BTB/POZ fold (2);	0.047168	0.85682	D	0.000000	T	0.80042	0.4551	L	0.56340	1.77	0.80722	D	1	B;B;B;B	0.22480	0.008;0.07;0.023;0.023	B;B;B;B	0.27715	0.018;0.082;0.028;0.028	T	0.76822	-0.2817	10	0.56958	D	0.05	-62.6954	18.8084	0.92048	0.0:0.0:1.0:0.0	.	155;194;186;186	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	I	186;194;138	ENSP00000278174:T186I;ENSP00000431186:T194I;ENSP00000435257:T138I	ENSP00000278174:T186I	T	-	2	0	BTBD10	13397610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.856000	0.86956	2.534000	0.85438	0.650000	0.86243	ACT		0.333	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		3	55	0	0	0	1	0	3	55				
ATM	472	broad.mit.edu	37	11	108190727	108190727	+	Missense_Mutation	SNP	C	C	G	rs551408889		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:108190727C>G	ENST00000452508.2	+	45	6583	c.6394C>G	c.(6394-6396)Cta>Gta	p.L2132V	ATM_ENST00000278616.4_Missense_Mutation_p.L2132V|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2132	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTACAATGCTCTACAATCTCT	0.299			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(6394-6396)Cta>Gta	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							95.0	101.0	99.0					11																	108190727		2201	4292	6493	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	g.chr11:108190727C>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6394C>G	11.37:g.108190727C>G	ENSP00000388058:p.Leu2132Val	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.L2132V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.L784V|ATM_uc001pkg.1_Missense_Mutation_p.L489V	p.L2132V	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	43	6779	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2132			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6394C>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701631	0.30142	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70399	-0.48;-0.48	5.59	3.6	0.41247	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.066388	0.64402	D	0.000008	T	0.58061	0.2096	L	0.41415	1.275	0.80722	D	1	B	0.16603	0.018	B	0.24974	0.057	T	0.52396	-0.8581	10	0.31617	T	0.26	.	6.5819	0.22598	0.0:0.6885:0.1445:0.1669	.	2132	Q13315	ATM_HUMAN	V	2132	ENSP00000278616:L2132V;ENSP00000388058:L2132V	ENSP00000278616:L2132V	L	+	1	2	ATM	107695937	1.000000	0.71417	0.983000	0.44433	0.852000	0.48524	1.534000	0.36051	1.236000	0.43740	0.655000	0.94253	CTA		0.299	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		29	50	0	0	0	1	0	29	50				
PRICKLE4	29964	broad.mit.edu	37	6	41754716	41754716	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr6:41754716A>G	ENST00000394260.1	+	5	884	c.884A>G	c.(883-885)aAg>aGg	p.K295R	PRICKLE4_ENST00000458694.1_Missense_Mutation_p.K335R|TOMM6_ENST00000398881.3_5'Flank|TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.K335R			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	295						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGTGATCCCAAGGACACCCCT	0.607											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011duf.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13						c.(1003-1005)aAg>aGg		Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.							128.0	151.0	143.0					6																	41754716		2203	4300	6503	SO:0001583	missense	29964					nucleus	zinc ion binding	g.chr6:41754716A>G	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.884A>G	6.37:g.41754716A>G	ENSP00000377803:p.Lys295Arg		OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	903	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_Non-coding_Transcript|TOMM6_uc011dug.1_5'UTR	p.K335R	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1252	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		295					A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37	c.1004A>G		.	.	.	.	.	.	.	.	.	.	A	9.611	1.131166	0.21041	.	.	ENSG00000124593	ENST00000458694;ENST00000394263;ENST00000394260	D;D;D	0.84873	-1.91;-1.91;-1.91	2.2	-4.4	0.03600	.	0.274599	0.25860	N	0.027834	T	0.46464	0.1394	L	0.27053	0.805	0.41394	D	0.987634	B	0.09022	0.002	B	0.09377	0.004	T	0.18116	-1.0347	10	0.25751	T	0.34	-1.4461	0.41	0.00439	0.3449:0.192:0.2742:0.1889	.	335	Q2TBC4-3	.	R	335;335;295	ENSP00000404911:K335R;ENSP00000377806:K335R;ENSP00000377803:K295R	ENSP00000335185:K335R	K	+	2	0	PRICKLE4	41862694	0.769000	0.28531	0.006000	0.13384	0.003000	0.03518	2.635000	0.46537	-1.250000	0.02497	-0.441000	0.05720	AAG		0.607	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		4	165	0	0	0	1	0	4	165				
ZNRF3	84133	broad.mit.edu	37	22	29445437	29445437	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr22:29445437A>G	ENST00000544604.2	+	8	1443	c.1268A>G	c.(1267-1269)cAc>cGc	p.H423R	ZNRF3_ENST00000402174.1_Missense_Mutation_p.H323R|ZNRF3_ENST00000332811.4_Missense_Mutation_p.H323R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.H323R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	423					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCACCCCTCCACCTGGACCAC	0.697																																						uc003aeg.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1267-1269)cAc>cGc		Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.							29.0	35.0	33.0					22																	29445437		2075	4194	6269	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29445437A>G	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1268A>G	22.37:g.29445437A>G	ENSP00000443824:p.His423Arg					ZNRF3_uc021wnq.1_Missense_Mutation_p.H323R	p.H423R	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN			7	1268	+			423					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.1268A>G	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.233197	0.39498	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.53	5.53	0.82687	.	0.205290	0.51477	D	0.000097	T	0.76716	0.4026	L	0.59436	1.845	0.40295	D	0.978545	B	0.13145	0.007	B	0.15870	0.014	T	0.74627	-0.3602	10	0.56958	D	0.05	-0.7553	10.9339	0.47235	0.8433:0.1567:0.0:0.0	.	423	Q9ULT6	ZNRF3_HUMAN	R	423;323;130;323;323	ENSP00000443824:H423R;ENSP00000328614:H323R;ENSP00000384456:H323R;ENSP00000384553:H323R	ENSP00000328614:H323R	H	+	2	0	ZNRF3	27775437	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.403000	0.59729	2.097000	0.63578	0.533000	0.62120	CAC		0.697	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		20	37	0	0	0	1	0	20	37				
CDH19	28513	broad.mit.edu	37	18	64197108	64197108	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:64197108C>T	ENST00000540086.1	-	9	1678	c.1432G>A	c.(1432-1434)Gtt>Att	p.V478I	CDH19_ENST00000262150.2_Missense_Mutation_p.V478I	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	587	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTTTCACAAACATAAGTCTCA	0.328																																						uc002lkc.1																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(1432-1434)Gtt>Att		Homo sapiens cadherin 19, type 2 (CDH19), mRNA.							120.0	118.0	119.0					18																	64197108		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64197108C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1432G>A	18.37:g.64197108C>T	ENSP00000439593:p.Val478Ile					CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.V478I	p.V478I	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			8	1570	-		Esophageal squamous(42;0.0132)	478			Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.1432G>A	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033732	0.35893	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.58652	0.6;0.32	5.53	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.121482	0.56097	N	0.000030	T	0.72867	0.3514	M	0.71206	2.165	0.38122	D	0.937896	P;D	0.89917	0.955;1.0	P;D	0.91635	0.671;0.999	T	0.74973	-0.3481	10	0.35671	T	0.21	.	13.0679	0.59045	0.0:0.921:0.0:0.079	.	478;478	F5H1K0;Q9H159	.;CAD19_HUMAN	I	478	ENSP00000262150:V478I;ENSP00000439593:V478I	ENSP00000262150:V478I	V	-	1	0	CDH19	62348088	0.990000	0.36364	0.924000	0.36721	0.984000	0.73092	2.675000	0.46875	1.339000	0.45563	0.650000	0.86243	GTT		0.328	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		27	27	0	0	0	1	0	27	27				
ATXN7L2	127002	broad.mit.edu	37	1	110033986	110033986	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:110033986C>G	ENST00000369870.3	+	10	1816	c.1801C>G	c.(1801-1803)Ctc>Gtc	p.L601V	CYB561D1_ENST00000528785.1_5'Flank|CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000393709.3_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000430195.2_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	601										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGTAGGGGCCTCTCGGCCAA	0.592																																						uc001dxr.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1801-1803)Ctc>Gtc		Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.							57.0	63.0	61.0					1																	110033986		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110033986C>G	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1801C>G	1.37:g.110033986C>G	ENSP00000358886:p.Leu601Val					ATXN7L2_uc001dxs.3_Missense_Mutation_p.L228V|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank	p.L601V	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	9	1816	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	601						Missense_Mutation	SNP	ENST00000369870.3	37	c.1801C>G	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336705	0.41398	.	.	ENSG00000162650	ENST00000369870;ENST00000369869	T	0.33216	1.42	4.77	4.77	0.60923	.	0.232304	0.25006	N	0.033868	T	0.24624	0.0597	N	0.19112	0.55	0.32418	N	0.549767	D;D	0.61697	0.99;0.97	D;B	0.72982	0.979;0.352	T	0.09335	-1.0679	10	0.59425	D	0.04	-12.6035	8.8422	0.35148	0.0:0.9005:0.0:0.0995	.	228;601	Q5T6C4;Q5T6C5	.;AT7L2_HUMAN	V	601;228	ENSP00000358886:L601V	ENSP00000358885:L228V	L	+	1	0	ATXN7L2	109835509	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.379000	0.59575	2.468000	0.83385	0.462000	0.41574	CTC		0.592	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		37	54	0	0	0	1	0	37	54				
LCMT1	51451	broad.mit.edu	37	16	25182127	25182127	+	Splice_Site	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr16:25182127G>A	ENST00000399069.3	+	9	1039		c.e9+1		LCMT1_ENST00000572869.1_Intron|LCMT1_ENST00000380966.4_Splice_Site	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1						C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AAGTGAGCAGGTATGGGGTTG	0.473																																					Colon(200;565 2072 24396 47922 50898)	uc002dnx.1																			0											c.e9+1		Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	L-Leucine(DB00149)						138.0	139.0	139.0					16																	25182127		2025	4191	6216	SO:0001630	splice_region_variant	51451						S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding	g.chr16:25182127G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.884+1G>A	16.37:g.25182127G>A						LCMT1_uc002dny.1_Splice_Site_p.R240_splice	p.R295_splice	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	9	1042	+			295					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Splice_Site	SNP	ENST00000399069.3	37	c.884_splice	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818652	0.71028	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LCMT1	25089628	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	7.621000	0.83083	2.941000	0.99782	0.655000	0.94253	.		0.473	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309	Intron	32	54	0	0	0	1	0	32	54				
MUC17	140453	broad.mit.edu	37	7	100679804	100679804	+	Missense_Mutation	SNP	G	G	A	rs71525815		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:100679804G>A	ENST00000306151.4	+	3	5171	c.5107G>A	c.(5107-5109)Gcc>Acc	p.A1703T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1703	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACACCGGTGGCCAGCTCTGC	0.478																																						uc003uxp.1																			0		p.A1703A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5107-5109)Gcc>Acc		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							184.0	198.0	193.0					7																	100679804		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679804G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5107G>A	7.37:g.100679804G>A	ENSP00000302716:p.Ala1703Thr					MUC17_uc010lho.1_Non-coding_Transcript	p.A1703T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	5160	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1703			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5107G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.030	-0.199843	0.06219	.	.	ENSG00000169876	ENST00000306151	T	0.02015	4.5	0.932	-1.86	0.07760	.	.	.	.	.	T	0.01320	0.0043	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.49163	-0.8968	9	0.02654	T	1	.	2.2302	0.03994	0.4295:0.3137:0.2568:0.0	.	1703	Q685J3	MUC17_HUMAN	T	1703	ENSP00000302716:A1703T	ENSP00000302716:A1703T	A	+	1	0	MUC17	100466524	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-5.235000	0.00139	-0.910000	0.03847	0.134000	0.15878	GCC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		23	289	0	0	0	1	0	23	289				
EPG5	57724	broad.mit.edu	37	18	43519707	43519707	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:43519707T>C	ENST00000282041.5	-	10	1992	c.1958A>G	c.(1957-1959)tAt>tGt	p.Y653C		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	653					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTCACTTACATAACCAAGAGT	0.388																																						uc002lbm.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(1957-1959)tAt>tGt		Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.							80.0	72.0	75.0					18																	43519707		1899	4125	6024	SO:0001583	missense	57724				autophagy			g.chr18:43519707T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1958A>G	18.37:g.43519707T>C	ENSP00000282041:p.Tyr653Cys					EPG5_uc002lbo.1_Missense_Mutation_p.Y653C	p.Y653C	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			9	2058	-			653					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1958A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508932	0.44660	.	.	ENSG00000152223	ENST00000282041	T	0.13420	2.59	5.4	5.4	0.78164	.	0.768841	0.12691	N	0.447191	T	0.36853	0.0982	M	0.63843	1.955	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.73380	0.961;0.98	T	0.03483	-1.1032	10	0.87932	D	0	-13.4881	15.423	0.75028	0.0:0.0:0.0:1.0	.	653;653	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	C	653	ENSP00000282041:Y653C	ENSP00000282041:Y653C	Y	-	2	0	EPG5	41773705	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	7.318000	0.79029	2.037000	0.60232	0.379000	0.24179	TAT		0.388	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		9	25	0	0	0	1	0	9	25				
KCNH2	3757	broad.mit.edu	37	7	150648922	150648922	+	Splice_Site	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:150648922A>G	ENST00000262186.5	-	7	1960	c.1559T>C	c.(1558-1560)cTg>cCg	p.L520P	KCNH2_ENST00000430723.3_Splice_Site_p.L520P|KCNH2_ENST00000392968.2_Splice_Site_p.L424P|KCNH2_ENST00000330883.4_Splice_Site_p.L180P	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	520					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CAGCCCGATCAGCTGGGGGAC	0.667																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.3																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.e7-1		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						22.0	24.0	23.0					7																	150648922		2202	4296	6498	SO:0001630	splice_region_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648922A>G	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1558-1T>C	7.37:g.150648922A>G						KCNH2_uc003wib.3_Splice_Site_p.L180_splice|KCNH2_uc011kux.2_Splice_Site_p.L424_splice|KCNH2_uc003wid.3_Splice_Site_p.L180_splice|KCNH2_uc003wie.3_Splice_Site_p.L520_splice	p.L520_splice	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1959	-	all_neural(206;0.219)		520					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Splice_Site	SNP	ENST00000262186.5	37	c.1558_splice	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456564	0.43634	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.98862	-5.19;-5.19;-5.19;-5.19	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.98960	0.9646	M	0.84846	2.72	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;0.998;0.986;0.733	D;D;D;P;P	0.91635	0.999;0.998;0.981;0.897;0.493	D	0.99047	1.0826	10	0.44086	T	0.13	.	11.0763	0.48034	1.0:0.0:0.0:0.0	.	424;520;180;520;180	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	P	180;424;520;180;520	ENSP00000328531:L180P;ENSP00000376695:L424P;ENSP00000262186:L520P;ENSP00000387657:L520P	ENSP00000262186:L520P	L	-	2	0	KCNH2	150279855	1.000000	0.71417	0.955000	0.39395	0.096000	0.18686	8.998000	0.93550	1.728000	0.51552	0.402000	0.26972	CTG		0.667	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	Missense_Mutation	3	37	0	0	0	1	0	3	37				
MAP1A	4130	broad.mit.edu	37	15	43815344	43815344	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr15:43815344C>G	ENST00000300231.5	+	4	2123	c.1673C>G	c.(1672-1674)cCa>cGa	p.P558R	MAP1A_ENST00000399453.1_Missense_Mutation_p.P558R|MAP1A_ENST00000382031.1_Missense_Mutation_p.P796R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	558					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGATAAGCCATTCCCTCTA	0.537																																						uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(1672-1674)cCa>cGa		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						72.0	75.0	74.0					15																	43815344		2064	4210	6274	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815344C>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1673C>G	15.37:g.43815344C>G	ENSP00000300231:p.Pro558Arg						p.P558R	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	2140	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	558					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.1673C>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.660648	0.00772	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.46063	0.88;0.88;0.88	4.85	2.98	0.34508	.	.	.	.	.	T	0.33585	0.0868	M	0.63428	1.95	0.09310	N	1	B	0.28178	0.202	B	0.24701	0.055	T	0.26608	-1.0098	9	0.15499	T	0.54	0.1456	4.852	0.13542	0.1505:0.6042:0.0:0.2453	.	558	P78559	MAP1A_HUMAN	R	796;558;558;558	ENSP00000371462:P796R;ENSP00000382380:P558R;ENSP00000300231:P558R	ENSP00000300231:P558R	P	+	2	0	MAP1A	41602636	0.001000	0.12720	0.071000	0.20095	0.001000	0.01503	1.602000	0.36783	0.643000	0.30638	-0.229000	0.12294	CCA		0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		53	48	0	0	0	1	0	53	48				
CCPG1	9236	broad.mit.edu	37	15	55664157	55664157	+	Silent	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr15:55664157A>G	ENST00000310958.6	-	6	838	c.540T>C	c.(538-540)gcT>gcC	p.A180A	CCPG1_ENST00000425574.3_Silent_p.A180A|CCPG1_ENST00000569205.1_Silent_p.A180A|DYX1C1-CCPG1_ENST00000565113.1_RNA|MIR628_ENST00000385229.1_RNA|CCPG1_ENST00000442196.3_Silent_p.A180A	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	180	Interaction with MCF2L and SRC. {ECO:0000250}.|Poly-Arg.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TCTTCTTCCTAGCACGGCGTC	0.433																																						uc002acy.3																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(538-540)gcT>gcC		Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.							86.0	81.0	82.0					15																	55664157		1862	4104	5966	SO:0001819	synonymous_variant	9236				cell cycle	integral to membrane		g.chr15:55664157A>G	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.540T>C	15.37:g.55664157A>G						CCPG1_uc002acu.2_Silent_p.A36A|CCPG1_uc002acz.2_Silent_p.A180A|CCPG1_uc002acw.2_5'UTR|CCPG1_uc002acx.3_Silent_p.A180A|CCPG1_uc010bfk.2_Silent_p.A180A|CCPG1_uc002acv.2_Silent_p.A180A	p.A180A	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	12	1957	-			180			Interaction with MCF2L and SRC (By similarity).|Poly-Arg.		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	ENST00000310958.6	37	c.540T>C	CCDS42039.1																																																																																				0.433	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		3	46	0	0	0	1	0	3	46				
CCDC39	339829	broad.mit.edu	37	3	180381672	180381672	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr3:180381672C>G	ENST00000442201.2	-	2	312	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	CCDC39_ENST00000273654.4_Missense_Mutation_p.E149Q	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	65					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTGAGAGCTCTTGCTTAACA	0.353																																						uc010hxe.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(193-195)Gag>Cag		Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.							143.0	133.0	137.0					3																	180381672		1841	4095	5936	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180381672C>G	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.193G>C	3.37:g.180381672C>G	ENSP00000405708:p.Glu65Gln					CCDC39_uc003fkn.3_Non-coding_Transcript	p.E65Q	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		1	308	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		65					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.193G>C	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352188	0.82132	.	.	ENSG00000145075	ENST00000273654;ENST00000442201;ENST00000471307	T	0.80480	-1.38	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.90786	0.7107	M	0.85945	2.785	0.47905	D	0.999549	D	0.89917	1.0	D	0.97110	1.0	D	0.90717	0.4632	10	0.54805	T	0.06	-26.7352	17.3718	0.87380	0.0:1.0:0.0:0.0	.	65	Q9UFE4	CCD39_HUMAN	Q	149;65;47	ENSP00000418702:E47Q	ENSP00000273654:E149Q	E	-	1	0	CCDC39	181864366	1.000000	0.71417	0.739000	0.30968	0.964000	0.63967	5.161000	0.64935	2.890000	0.99128	0.585000	0.79938	GAG		0.353	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		15	44	0	0	0	1	0	15	44				
NIPSNAP3A	25934	broad.mit.edu	37	9	107510105	107510105	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr9:107510105C>T	ENST00000374767.4	+	1	137	c.32C>T	c.(31-33)gCg>gTg	p.A11V		NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	11						cytoplasm (GO:0005737)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGACTCGGGCGCTGGCCTCA	0.682																																						uc004bch.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						c.(31-33)gCg>gTg		Homo sapiens nipsnap homolog 3A (C. elegans) (NIPSNAP3A), mRNA.							11.0	13.0	12.0					9																	107510105		2195	4281	6476	SO:0001583	missense	55335							g.chr9:107510105C>T	BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.32C>T	9.37:g.107510105C>T	ENSP00000363899:p.Ala11Val					NIPSNAP3B_uc011lvt.2_Missense_Mutation_p.A11V|NIPSNAP3B_uc011lvu.1_Missense_Mutation_p.A11V	p.A11V	NM_015469	NP_056284	Q9BS92	NPS3B_HUMAN			0	137	+			11					A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	ENST00000374767.4	37	c.32C>T	CCDS6760.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504959	0.64410	.	.	ENSG00000136783	ENST00000374767	T	0.56611	0.45	3.67	-1.46	0.08800	.	0.688763	0.13796	N	0.362143	T	0.42108	0.1188	L	0.53249	1.67	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.34527	-0.9825	10	0.48119	T	0.1	.	7.3163	0.26503	0.0:0.4292:0.0:0.5708	.	11;11	B4DW81;Q9UFN0	.;NPS3A_HUMAN	V	11	ENSP00000363899:A11V	ENSP00000363899:A11V	A	+	2	0	NIPSNAP3A	106549926	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-0.194000	0.09559	-0.305000	0.08831	0.563000	0.77884	GCG		0.682	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1	NM_015469		6	15	0	0	0	1	0	6	15				
CSNK1G3	1456	broad.mit.edu	37	5	122881412	122881412	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr5:122881412A>G	ENST00000361991.2	+	1	85	c.55A>G	c.(55-57)Agt>Ggt	p.S19G	CSNK1G3_ENST00000345990.4_Missense_Mutation_p.S19G|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.S19G|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.S19G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.S19G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.S19G|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.S19G			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	19					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GGCACGACCTAGTGGTCGATC	0.403																																					Pancreas(187;2868 2964 4353 6297)	uc003ktl.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(55-57)Agt>Ggt		Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 4, mRNA.							135.0	115.0	122.0					5																	122881412		2203	4300	6503	SO:0001583	missense	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881412A>G	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.55A>G	5.37:g.122881412A>G	ENSP00000354942:p.Ser19Gly					CSNK1G3_uc003ktn.3_Missense_Mutation_p.S19G|CSNK1G3_uc003ktm.3_Missense_Mutation_p.S19G|CSNK1G3_uc003kto.3_Missense_Mutation_p.S19G|CSNK1G3_uc011cwr.2_Intron|CSNK1G3_uc011cws.2_Intron|CSNK1G3_uc010jda.3_Missense_Mutation_p.S19G	p.S19G	NM_001044723	NP_001038188	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	1	774	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	19					A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	c.55A>G	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.425353	0.25639	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T	0.51574	0.71;0.7;0.73;0.73;0.7;0.7;0.71	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.27053	0.805	0.44402	D	0.99731	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.10450	0.002;0.005;0.002;0.005	T	0.13308	-1.0514	10	0.15952	T	0.53	.	15.4517	0.75279	1.0:0.0:0.0:0.0	.	19;19;19;19	A8K040;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;KC1G3_HUMAN;.	G	19	ENSP00000378807:S19G;ENSP00000378806:S19G;ENSP00000334735:S19G;ENSP00000429412:S19G;ENSP00000423838:S19G;ENSP00000354942:S19G;ENSP00000353904:S19G	ENSP00000334735:S19G	S	+	1	0	CSNK1G3	122909311	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.209000	0.42806	2.263000	0.75096	0.533000	0.62120	AGT		0.403	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		3	26	0	0	0	1	0	3	26				
DDX60L	91351	broad.mit.edu	37	4	169374416	169374416	+	Silent	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:169374416T>C	ENST00000511577.1	-	8	1102	c.855A>G	c.(853-855)ctA>ctG	p.L285L	DDX60L_ENST00000505890.1_Silent_p.L285L|DDX60L_ENST00000260184.7_Silent_p.L285L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	285							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCTGCAGGGATAGGCAATTAC	0.463																																						uc021xuh.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(853-855)ctA>ctG		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.							76.0	79.0	78.0					4																	169374416		2024	4206	6230	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169374416T>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.855A>G	4.37:g.169374416T>C						DDX60L_uc003irq.4_Silent_p.L285L|DDX60L_uc003irr.1_Silent_p.L285L|DDX60L_uc003irs.1_Silent_p.L12L	p.L285L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	6	965	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	285					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.855A>G																																																																																					0.463	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		11	16	0	0	0	1	0	11	16				
TCEA3	6920	broad.mit.edu	37	1	23743819	23743819	+	Silent	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:23743819T>C	ENST00000450454.2	-	4	409	c.303A>G	c.(301-303)aaA>aaG	p.K101K	TCEA3_ENST00000374601.3_Silent_p.K101K|TCEA3_ENST00000461794.1_Silent_p.K64K	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	101					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACTCAAGccctttttccttct	0.473																																						uc021oig.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(301-303)aaA>aaG		Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.							183.0	174.0	177.0					1																	23743819		1847	4094	5941	SO:0001819	synonymous_variant	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23743819T>C	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.303A>G	1.37:g.23743819T>C						TCEA3_uc021oih.1_Silent_p.K80K|TCEA3_uc010ody.1_Silent_p.K64K	p.K101K	NM_003196	NP_003187	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	3	438	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	101					A8K2K7|Q5DR83	Silent	SNP	ENST00000450454.2	37	c.303A>G	CCDS44086.1																																																																																				0.473	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		3	123	0	0	0	1	0	3	123				
C19orf35	374872	broad.mit.edu	37	19	2276472	2276472	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:2276472G>A	ENST00000342063.3	-	4	722	c.629C>T	c.(628-630)gCg>gTg	p.A210V		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	210								p.A210E(1)		large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCACGTCCGCCCCGGGCTT	0.706																																						uc002lvn.2																			1	Substitution - Missense(1)	p.A210E(2)	lung(1)	large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(628-630)gCg>gTg		Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.							7.0	9.0	8.0					19																	2276472		1946	3753	5699	SO:0001583	missense	374872							g.chr19:2276472G>A	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.629C>T	19.37:g.2276472G>A	ENSP00000345102:p.Ala210Val					SPPL2B_uc010dsw.1_Intron	p.A210V	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	729	-			210						Missense_Mutation	SNP	ENST00000342063.3	37	c.629C>T	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003843	0.35320	.	.	ENSG00000188305	ENST00000342063	T	0.15139	2.45	2.82	1.76	0.24704	.	.	.	.	.	T	0.11750	0.0286	L	0.50333	1.59	0.09310	N	1	P	0.36974	0.576	B	0.20955	0.032	T	0.17048	-1.0382	9	0.42905	T	0.14	.	6.4182	0.21728	0.1485:0.0:0.8515:0.0	.	210	Q6ZS72	CS035_HUMAN	V	210	ENSP00000345102:A210V	ENSP00000345102:A210V	A	-	2	0	C19orf35	2227472	0.002000	0.14202	0.004000	0.12327	0.285000	0.27093	1.153000	0.31676	0.381000	0.24851	0.561000	0.74099	GCG		0.706	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		4	22	0	0	0	1	0	4	22				
ZNF532	55205	broad.mit.edu	37	18	56587101	56587101	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:56587101A>T	ENST00000336078.4	+	4	2358	c.1582A>T	c.(1582-1584)Aac>Tac	p.N528Y	ZNF532_ENST00000591808.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000591083.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000589288.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000591230.1_Missense_Mutation_p.N528Y	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGCCAACCTTAACCTTTTGCC	0.542																																						uc002lho.3																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1582-1584)Aac>Tac		Homo sapiens zinc finger protein 532 (ZNF532), mRNA.							40.0	36.0	37.0					18																	56587101		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587101A>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1582A>T	18.37:g.56587101A>T	ENSP00000338217:p.Asn528Tyr					ZNF532_uc002lhp.3_Missense_Mutation_p.N526Y|ZNF532_uc010xeg.2_Missense_Mutation_p.N528Y|ZNF532_uc002lhr.3_Missense_Mutation_p.N526Y|ZNF532_uc002lhs.3_Missense_Mutation_p.N526Y	p.N528Y	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			3	2129	+			528					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.1582A>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	-	15.70	2.911193	0.52439	.	.	ENSG00000074657	ENST00000336078	T	0.01902	4.57	5.6	5.6	0.85130	.	0.046631	0.85682	D	0.000000	T	0.10165	0.0249	M	0.63843	1.955	0.49483	D	0.999799	D	0.76494	0.999	D	0.66196	0.942	T	0.00503	-1.1701	10	0.87932	D	0	-39.3616	14.8516	0.70300	1.0:0.0:0.0:0.0	.	528	Q9HCE3	ZN532_HUMAN	Y	528	ENSP00000338217:N528Y	ENSP00000338217:N528Y	N	+	1	0	ZNF532	54738081	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.224000	0.72265	2.151000	0.67156	0.445000	0.29226	AAC		0.542	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		4	45	0	0	0	1	0	4	45				
CARS	833	broad.mit.edu	37	11	3023813	3023813	+	Silent	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:3023813C>T	ENST00000397111.5	-	20	2231	c.1986G>A	c.(1984-1986)agG>agA	p.R662R	CARS_ENST00000470221.2_Intron|CARS_ENST00000278224.9_Silent_p.R662R|CARS_ENST00000401769.3_Silent_p.R675R|CARS_ENST00000397114.3_Silent_p.R652R|CARS_ENST00000380525.4_Silent_p.R745R			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	662					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTTCTTCTTCCTCTTCTCCT	0.557			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	uc001lxf.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(2233-2235)agG>agA		Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	L-Cysteine(DB00151)						234.0	225.0	228.0					11																	3023813		2202	4298	6500	SO:0001819	synonymous_variant	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3023813C>T	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1986G>A	11.37:g.3023813C>T						CARS_uc009ydu.3_Intron|CARS_uc010qxo.2_Silent_p.R745R|CARS_uc001lxe.3_Silent_p.R652R|CARS_uc001lxg.3_Silent_p.R662R|CARS_uc001lxh.3_Silent_p.R662R|CARS_uc010qxp.2_Silent_p.R675R	p.R745R	NM_001014437	NP_001014437	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	20	2319	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	662					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	ENST00000397111.5	37	c.2235G>A	CCDS7742.1																																																																																				0.557	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		46	235	0	0	0	1	0	46	235				
PABPC1	26986	broad.mit.edu	37	8	101719214	101719214	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr8:101719214T>C	ENST00000318607.5	-	10	2476	c.1348A>G	c.(1348-1350)Atg>Gtg	p.M450V	PABPC1_ENST00000519596.1_Intron|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000522387.1_Missense_Mutation_p.M418V|PABPC1_ENST00000519004.1_Missense_Mutation_p.M405V	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	450					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCGGGCATATTTTGGAAT	0.438																																						uc003yjs.1																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(1348-1350)Atg>Gtg		Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.							54.0	54.0	54.0					8																	101719214		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101719214T>C	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1348A>G	8.37:g.101719214T>C	ENSP00000313007:p.Met450Val					PABPC1_uc011lhc.1_Missense_Mutation_p.M418V|PABPC1_uc011lhd.1_Missense_Mutation_p.M405V|PABPC1_uc003yjt.1_Missense_Mutation_p.M447V|PABPC1_uc003yju.2_Intron	p.M450V	NM_002568	NP_002559	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		9	1852	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		450					Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.1348A>G	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.86|10.86	1.468962|1.468962	0.26335|0.26335	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000517403|ENST00000318607;ENST00000519004;ENST00000522387	.|T;T;T	.|0.29397	.|1.67;1.57;2.65	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.25269|0.25269	0.0614|0.0614	L|L	0.33293|0.33293	1|1	0.54753|0.54753	D|D	0.999989|0.999989	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.001	T|T	0.04737|0.04737	-1.0930|-1.0930	5|9	.|.	.|.	.|.	.|.	16.1251|16.1251	0.81386|0.81386	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|418;450;450	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	M|V	102|450;405;418	.|ENSP00000313007:M450V;ENSP00000429594:M405V;ENSP00000429395:M418V	.|.	I|M	-|-	3|1	3|0	PABPC1|PABPC1	101788390|101788390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.414000|7.414000	0.80117|0.80117	2.272000|2.272000	0.75746|0.75746	0.528000|0.528000	0.53228|0.53228	ATA|ATG		0.438	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		3	48	0	0	0	1	0	3	48				
CACNA2D4	93589	broad.mit.edu	37	12	1949958	1949958	+	Missense_Mutation	SNP	G	G	A	rs532757608	byFrequency	TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:1949958G>A	ENST00000382722.5	-	26	2860	c.2498C>T	c.(2497-2499)aCg>aTg	p.T833M	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T769M|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T769M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T808M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T833M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T694M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	833					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGTGCTTGCCGTCACCACCAT	0.597													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15574	0.0		0.0	False		,,,				2504	0.0				Colon(2;101 179 21030 23310 28141)	uc021qsx.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2497-2499)aCg>aTg		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.							79.0	85.0	83.0					12																	1949958		2127	4234	6361	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1949958G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2498C>T	12.37:g.1949958G>A	ENSP00000372169:p.Thr833Met					CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.T697M|CACNA2D4_uc009zdr.2_Non-coding_Transcript	p.T833M	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	25	2729	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	833					Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.2498C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801911	0.50315	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.69306	-0.39	4.71	3.79	0.43588	.	0.446483	0.23977	N	0.042708	T	0.75459	0.3852	M	0.84948	2.725	0.32370	N	0.556024	D;D	0.60575	0.988;0.981	P;P	0.51974	0.686;0.482	T	0.80677	-0.1276	10	0.34782	T	0.22	.	11.995	0.53196	0.0:0.1832:0.8168:0.0	.	833;833	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	M	769;833;833	ENSP00000372169:T833M	ENSP00000280663:T833M	T	-	2	0	CACNA2D4	1820219	1.000000	0.71417	0.015000	0.15790	0.525000	0.34531	5.233000	0.65337	1.060000	0.40578	0.561000	0.74099	ACG		0.597	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			37	37	0	0	0	1	0	37	37				
SDAD1	55153	broad.mit.edu	37	4	76886950	76886950	+	Silent	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:76886950A>G	ENST00000356260.5	-	13	1189	c.1071T>C	c.(1069-1071)gcT>gcC	p.A357A	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Silent_p.A320A	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	357					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGCTTGTGCAGCAAACAGAA	0.473																																						uc003hje.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1069-1071)gcT>gcC		Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.							169.0	154.0	159.0					4																	76886950		2203	4300	6503	SO:0001819	synonymous_variant	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76886950A>G	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1071T>C	4.37:g.76886950A>G						SDAD1_uc003hjf.4_Silent_p.A260A|SDAD1_uc011cbr.2_Silent_p.A320A	p.A357A	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1190	-			357					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP	ENST00000356260.5	37	c.1071T>C	CCDS3573.2																																																																																				0.473	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		29	79	0	0	0	1	0	29	79				
OR11H12	440153	broad.mit.edu	37	14	19378084	19378084	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr14:19378084G>T	ENST00000550708.1	+	1	563	c.491G>T	c.(490-492)tGg>tTg	p.W164L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTGTGCTGGGTTTGTGGA	0.488																																						uc010tkp.2																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(490-492)tGg>tTg		Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.							149.0	163.0	159.0					14																	19378084		2201	4294	6495	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378084G>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.491G>T	14.37:g.19378084G>T	ENSP00000449002:p.Trp164Leu						p.W164L	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	491	+	all_cancers(95;0.00108)		164						Missense_Mutation	SNP	ENST00000550708.1	37	c.491G>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.770733	0.31320	.	.	ENSG00000257115	ENST00000550708	T	0.58210	0.35	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	U	0.002208	T	0.68924	0.3054	M	0.85630	2.765	0.26265	N	0.978514	D	0.89917	1.0	D	0.97110	1.0	T	0.74352	-0.3693	9	0.66056	D	0.02	.	7.1009	0.25336	1.0E-4:0.0:0.9999:0.0	.	164	B2RN74	O11HC_HUMAN	L	164	ENSP00000449002:W164L	ENSP00000449002:W164L	W	+	2	0	CR383656.1	18448084	0.134000	0.22483	0.963000	0.40424	0.194000	0.23727	1.020000	0.30027	0.619000	0.30197	0.064000	0.15345	TGG		0.488	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		19	123	0	0	0	1	0	19	123				
CYP4F11	57834	broad.mit.edu	37	19	16038119	16038119	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:16038119T>C	ENST00000402119.4	-	4	854	c.428A>G	c.(427-429)aAg>aGg	p.K143R	CYP4F11_ENST00000326742.8_Missense_Mutation_p.K143R|CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000248041.8_Missense_Mutation_p.K143R	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCGGCTCCACTTGTCACCACC	0.537																																						uc002nbu.2																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(427-429)aAg>aGg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.							86.0	86.0	86.0					19																	16038119		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16038119T>C	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.428A>G	19.37:g.16038119T>C	ENSP00000384588:p.Lys143Arg					CYP4F11_uc010eab.1_Missense_Mutation_p.K143R|CYP4F11_uc002nbt.2_Missense_Mutation_p.K143R	p.K143R	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN			4	464	-			143						Missense_Mutation	SNP	ENST00000402119.4	37	c.428A>G	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	t	14.90	2.674288	0.47781	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.68331	-0.32;-0.32;-0.32	2.57	2.57	0.30868	.	0.247626	0.31301	U	0.007900	T	0.75354	0.3838	M	0.78049	2.395	0.30838	N	0.735966	D;P	0.53885	0.963;0.828	P;P	0.58780	0.845;0.737	T	0.75230	-0.3391	10	0.66056	D	0.02	.	8.6566	0.34066	0.0:0.0:0.0:1.0	.	143;143	F8W978;Q9HBI6	.;CP4FB_HUMAN	R	143	ENSP00000384588:K143R;ENSP00000248041:K143R;ENSP00000319859:K143R	ENSP00000248041:K143R	K	-	2	0	CYP4F11	15899119	0.940000	0.31905	1.000000	0.80357	0.559000	0.35586	1.132000	0.31418	1.178000	0.42870	0.248000	0.18094	AAG		0.537	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		69	73	0	0	0	1	0	69	73				
NLRP8	126205	broad.mit.edu	37	19	56467090	56467090	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:56467090G>A	ENST00000291971.3	+	3	1737	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G556R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	556					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTCACATGGGACTTTTCTT	0.463																																						uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1666-1668)Gga>Aga		Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.							72.0	68.0	69.0					19																	56467090		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467090G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1666G>A	19.37:g.56467090G>A	ENSP00000291971:p.Gly556Arg					NLRP8_uc010etg.3_Missense_Mutation_p.G556R	p.G556R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	2	1737	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	556					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1666G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	2.278	-0.365396	0.05069	.	.	ENSG00000179709	ENST00000291971	D	0.83914	-1.78	2.04	2.04	0.26737	.	.	.	.	.	D	0.84768	0.5545	M	0.68952	2.095	0.23113	N	0.998278	D;D	0.64830	0.994;0.97	P;P	0.54889	0.763;0.665	T	0.73088	-0.4093	9	0.42905	T	0.14	.	7.6199	0.28179	0.0:0.0:1.0:0.0	.	556;556	Q86W28-2;Q86W28	.;NALP8_HUMAN	R	556	ENSP00000291971:G556R	ENSP00000291971:G556R	G	+	1	0	NLRP8	61158902	0.490000	0.26012	0.099000	0.21106	0.128000	0.20619	3.539000	0.53604	1.453000	0.47775	0.514000	0.50259	GGA		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		31	37	0	0	0	1	0	31	37				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	23	0	0	0	1	0	14	23				
THAP7	80764	broad.mit.edu	37	22	21356155	21356155	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr22:21356155G>A	ENST00000215742.4	-	1	220	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.R16C	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	16					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGCGTCTCGCGCGTGTCCCGT	0.697																																						uc002ztr.1																			0				cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(46-48)Cgc>Tgc		Homo sapiens THAP domain containing 7 (THAP7), transcript variant 2, mRNA.							5.0	7.0	6.0					22																	21356155		2086	4136	6222	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21356155G>A	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.46C>T	22.37:g.21356155G>A	ENSP00000215742:p.Arg16Cys					THAP7_uc002zts.1_Missense_Mutation_p.R16C|DQ574263_uc021wlz.1_5'Flank|THAP7-AS1_uc002ztt.1_5'Flank|THAP7-AS1_uc002ztv.3_5'Flank	p.R16C	NM_001008695	NP_085050	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		1	76	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	16					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.46C>T	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142807	0.94560	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96619	-4.07;-4.07	5.54	5.54	0.83059	Zinc finger, C2CH-type (3);	0.117832	0.35040	N	0.003488	D	0.97176	0.9077	M	0.77103	2.36	0.52501	D	0.999952	D	0.69078	0.997	P	0.57244	0.816	D	0.97210	0.9870	10	0.87932	D	0	-15.5724	11.9817	0.53123	0.0:0.0:0.8269:0.1731	.	16	Q9BT49	THAP7_HUMAN	C	16	ENSP00000215742:R16C;ENSP00000382084:R16C	ENSP00000215742:R16C	R	-	1	0	THAP7	19686155	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	2.853000	0.48317	2.605000	0.88082	0.563000	0.77884	CGC		0.697	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		4	2	0	0	0	1	0	4	2				
DNAH3	55567	broad.mit.edu	37	16	20975172	20975172	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr16:20975172C>T	ENST00000261383.3	-	53	10033	c.10034G>A	c.(10033-10035)cGc>cAc	p.R3345H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3345					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTACTTGATGCGCAGATTCAG	0.488																																						uc010vbe.2																			0		p.R3345C(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10033-10035)cGc>cAc		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							173.0	132.0	146.0					16																	20975172		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975172C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10034G>A	16.37:g.20975172C>T	ENSP00000261383:p.Arg3345His					DNAH3_uc010vbd.2_Missense_Mutation_p.R780H	p.R3345H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	52	10034	-			3345					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10034G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867581	0.51588	.	.	ENSG00000158486	ENST00000261383	T	0.76968	-1.06	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92741	0.6208	10	0.87932	D	0	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	3345	Q8TD57	DYH3_HUMAN	H	3345	ENSP00000261383:R3345H	ENSP00000261383:R3345H	R	-	2	0	DNAH3	20882673	1.000000	0.71417	0.157000	0.22605	0.008000	0.06430	7.818000	0.86416	2.734000	0.93682	0.563000	0.77884	CGC		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		52	86	0	0	0	1	0	52	86				
PKP4	8502	broad.mit.edu	37	2	159519930	159519930	+	Silent	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:159519930C>T	ENST00000389759.3	+	15	2662	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L	PKP4_ENST00000389757.3_Silent_p.L850L|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	850					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAGGGTCTCTCCAGAACCTCT	0.453										HNSCC(62;0.18)																												uc002tzv.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(2548-2550)ctC>ctT		Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.							59.0	60.0	60.0					2																	159519930		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159519930C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2550C>T	2.37:g.159519930C>T		HNSCC(62;0.18)				PKP4_uc002tzu.3_Silent_p.L850L|PKP4_uc002tzw.3_Silent_p.L850L|PKP4_uc002tzx.3_Silent_p.L507L|PKP4_uc002uaa.3_Silent_p.L702L|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Silent_p.L31L	p.L850L	NM_003628	NP_003619	Q99569	PKP4_HUMAN			14	2810	+			850					Q86W91	Silent	SNP	ENST00000389759.3	37	c.2550C>T	CCDS33305.1																																																																																				0.453	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			19	29	0	0	0	1	0	19	29				
CDH23	64072	broad.mit.edu	37	10	73537998	73537998	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr10:73537998A>G	ENST00000224721.6	+	39	5140	c.5135A>G	c.(5134-5136)tAc>tGc	p.Y1712C		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1707	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACGGCCGCTACACCCTGATC	0.607																																						uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5110-5112)tAc>tGc		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							77.0	86.0	83.0					10																	73537998		2116	4223	6339	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73537998A>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5135A>G	10.37:g.73537998A>G	ENSP00000224721:p.Tyr1712Cys						p.Y1704C	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			37	5501	+			1707			Cadherin 16.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5111A>G		.	.	.	.	.	.	.	.	.	.	A	25.4	4.630684	0.87660	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91505	0.5222	9	0.87932	D	0	.	15.4434	0.75208	1.0:0.0:0.0:0.0	.	1707	Q9H251	CAD23_HUMAN	C	1712;1707;1710	.	ENSP00000224721:Y1712C	Y	+	2	0	CDH23	73208004	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.194000	0.94962	2.053000	0.61076	0.533000	0.62120	TAC		0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		5	60	0	0	0	1	0	5	60				
SULF2	55959	broad.mit.edu	37	20	46290580	46290580	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr20:46290580T>A	ENST00000359930.4	-	18	3282	c.2431A>T	c.(2431-2433)Atg>Ttg	p.M811L	SULF2_ENST00000484875.1_Missense_Mutation_p.M811L|SULF2_ENST00000467815.1_Missense_Mutation_p.M811L|SULF2_ENST00000361612.4_Missense_Mutation_p.M811L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	811					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTCAGCTCCATGAGCTGTACG	0.532																																						uc002xto.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2431-2433)Atg>Ttg		Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.							176.0	135.0	149.0					20																	46290580		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	g.chr20:46290580T>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2431A>T	20.37:g.46290580T>A	ENSP00000353007:p.Met811Leu					SULF2_uc002xtr.3_Missense_Mutation_p.M811L|SULF2_uc002xtq.3_Missense_Mutation_p.M811L|SULF2_uc010zyd.2_Missense_Mutation_p.M90L	p.M811L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			17	2761	-			811					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.2431A>T	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517226	0.85495	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.36	5.36	0.76844	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	L	0.42632	1.34	0.50313	D	0.999864	D;P	0.59357	0.985;0.882	D;P	0.74674	0.984;0.869	T	0.12268	-1.0554	10	0.33141	T	0.24	-27.9805	15.3622	0.74487	0.0:0.0:0.0:1.0	.	811;811	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	L	811;811;811;230;811	ENSP00000353007:M811L;ENSP00000418290:M811L;ENSP00000354662:M811L;ENSP00000418442:M811L	ENSP00000353007:M811L	M	-	1	0	SULF2	45723987	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.168000	0.64978	2.028000	0.59812	0.379000	0.24179	ATG		0.532	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		51	59	0	0	0	1	0	51	59				
MIS18BP1	55320	broad.mit.edu	37	14	45693947	45693947	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr14:45693947delT	ENST00000310806.4	-	11	2301	c.1843delA	c.(1843-1845)acafs	p.T616fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	616					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCTTCAGTTGTCTCTTTAATT	0.294																																						uc001wwf.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(1843-1845)acafs		Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.							39.0	40.0	40.0					14																	45693947		2197	4295	6492	SO:0001589	frameshift_variant	55320				CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693947delT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1843delA	14.37:g.45693947delT	ENSP00000309790:p.Thr616fs						p.T615fs	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			10	2302	-			615					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.1843delA	CCDS9684.1																																																																																				0.294	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			25	19						25	19	---	---	---	---
