#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_ACHILLES_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
MAN1C1	57134	broad.mit.edu	37	1	26012972	26012972	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:26012972G>C	ENST00000374332.4	+	2	912	c.582G>C	c.(580-582)atG>atC	p.M194I	MAN1C1_ENST00000263979.3_Missense_Mutation_p.M14I	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	194					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.M194I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GTTATGCAATGGGGAAAAACG	0.488																																							uc001bkm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(580-582)ATG>ATC		mannosidase, alpha, class 1C, member 1							181.0	171.0	175.0					1																	26012972		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26012972G>C	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.582G>C	1.37:g.26012972G>C	ENSP00000363452:p.Met194Ile					MAN1C1_uc009vry.1_Missense_Mutation_p.M14I	p.M194I	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	2	912	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	194			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.582G>C	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246086	0.59103	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979	T;T	0.71934	-0.61;-0.61	5.19	5.19	0.71726	.	0.202582	0.43260	D	0.000599	T	0.69672	0.3137	L	0.51422	1.61	0.80722	D	1	P	0.35383	0.498	B	0.40329	0.326	T	0.73344	-0.4012	10	0.87932	D	0	.	14.5703	0.68205	0.0:0.0:1.0:0.0	.	194	Q9NR34	MA1C1_HUMAN	I	194;14;14	ENSP00000363452:M194I;ENSP00000263979:M14I	ENSP00000263979:M14I	M	+	3	0	MAN1C1	25885559	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	3.436000	0.52856	2.574000	0.86865	0.563000	0.77884	ATG		0.488	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		24	69	0	0	0	0.005443	0	24	69				
ARID1A	8289	broad.mit.edu	37	1	27057727	27057727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:27057727C>T	ENST00000324856.7	+	3	1806	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q479*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q96*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	479	Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q479*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTCACCCTCAGCAGCAGCA	0.557			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																		uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		2	Substitution - Nonsense(2)		lung(1)|endometrium(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1435-1437)CAG>TAG		AT rich interactive domain 1A isoform a							304.0	286.0	292.0					1																	27057727		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057727C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1435C>T	1.37:g.27057727C>T	ENSP00000320485:p.Gln479*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q479*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q479*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q96*	p.Q479*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	1808	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	479			Poly-Gln.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1435C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687441	0.68157	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	.	.	.	4.72	4.72	0.59763	.	0.190704	0.45867	D	0.000333	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-5.3722	17.8439	0.88724	0.0:1.0:0.0:0.0	.	.	.	.	X	479;479;96;96	.	ENSP00000320485:Q479X	Q	+	1	0	ARID1A	26930314	0.996000	0.38824	1.000000	0.80357	0.930000	0.56654	2.072000	0.41510	2.454000	0.82982	0.561000	0.74099	CAG		0.557	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		85	89	0	0	0	0.01441	0	85	89				
RPE65	6121	broad.mit.edu	37	1	68912489	68912489	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:68912489A>G	ENST00000262340.5	-	3	202	c.149T>C	c.(148-150)tTt>tCt	p.F50S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	50					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.F50S(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCCAACTTCAAAGAGTCCTGG	0.507																																							uc001dei.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(148-150)TTT>TCT		retinal pigment epithelium-specific protein							127.0	107.0	114.0					1																	68912489		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68912489A>G	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.149T>C	1.37:g.68912489A>G	ENSP00000262340:p.Phe50Ser						p.F50S	NM_000329	NP_000320	Q16518	RPE65_HUMAN			3	203	-			50					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.149T>C	CCDS643.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.977342	0.92982	.	.	ENSG00000116745	ENST00000262340	D	0.95035	-3.59	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97178	0.9849	10	0.38643	T	0.18	-1.9036	15.9966	0.80256	1.0:0.0:0.0:0.0	.	50	Q16518	RPE65_HUMAN	S	50	ENSP00000262340:F50S	ENSP00000262340:F50S	F	-	2	0	RPE65	68685077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.927000	0.92846	2.254000	0.74563	0.482000	0.46254	TTT		0.507	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		25	27	0	0	0	0.016522	0	25	27				
AK5	26289	broad.mit.edu	37	1	77949040	77949040	+	Missense_Mutation	SNP	G	G	T	rs572104412		TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:77949040G>T	ENST00000354567.2	+	9	1361	c.1098G>T	c.(1096-1098)atG>atT	p.M366I	AK5_ENST00000344720.5_Missense_Mutation_p.M340I	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	366					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.M366I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGGACACTATGGGAGGTGAGT	0.328													G|||	1	0.000199681	0.0	0.0	5008	,	,		20109	0.0		0.0	False		,,,				2504	0.001						uc001dhn.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1096-1098)ATG>ATT		adenylate kinase 5 isoform 1							151.0	147.0	149.0					1																	77949040		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77949040G>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1098G>T	1.37:g.77949040G>T	ENSP00000346577:p.Met366Ile					AK5_uc001dho.2_Missense_Mutation_p.M340I	p.M366I	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			9	1355	+			366					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.1098G>T	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	5.379	0.255230	0.10185	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.70516	-0.49;-0.49	4.25	0.308	0.15815	.	1.052380	0.07332	N	0.879363	T	0.31544	0.0800	N	0.14661	0.345	0.40881	D	0.983994	B	0.02656	0.0	B	0.01281	0.0	T	0.20638	-1.0269	10	0.37606	T	0.19	-1.1893	6.5973	0.22681	0.4071:0.0:0.5929:0.0	.	366	Q9Y6K8	KAD5_HUMAN	I	366;340	ENSP00000346577:M366I;ENSP00000341430:M340I	ENSP00000341430:M340I	M	+	3	0	AK5	77721628	0.044000	0.20184	0.153000	0.22517	0.453000	0.32348	-0.035000	0.12205	0.069000	0.16605	0.655000	0.94253	ATG		0.328	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		4	128	1	0	0.00116845	0.001168	0.00125277	4	128				
PDE4DIP	9659	broad.mit.edu	37	1	145021125	145021125	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:145021125C>T	ENST00000530740.1	-	2	314	c.276G>A	c.(274-276)acG>acA	p.T92T	PDE4DIP_ENST00000478649.2_Silent_p.T21T|RP11-326G21.1_ENST00000610119.1_RNA|PDE4DIP_ENST00000313382.9_Silent_p.T21T|PDE4DIP_ENST00000493130.2_Silent_p.T21T|PDE4DIP_ENST00000369348.3_Silent_p.T92T|PDE4DIP_ENST00000369359.4_Silent_p.T92T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.T92T(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGTGTGACTCGTTCTGGGTA	0.433			T	PDGFRB	MPD																																		uc001elx.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - coding silent(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(61-63)ACG>ACA		phosphodiesterase 4D interacting protein isoform							222.0	199.0	207.0					1																	145021125		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145021125C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.276G>A	1.37:g.145021125C>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Silent_p.T21T|PDE4DIP_uc001elo.2_Silent_p.T92T|PDE4DIP_uc001emh.2_Silent_p.T92T	p.T21T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	2	398	-			Error:Variant_position_missing_in_Q5VU43_after_alignment					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000530740.1	37	c.63G>A																																																																																					0.433	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		15	196	0	0	0	0.004007	0	15	196				
SHC1	6464	broad.mit.edu	37	1	154942831	154942831	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:154942831G>A	ENST00000368445.5	-	1	386	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	SHC1_ENST00000448116.2_Silent_p.L58L|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	58					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.L58L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGGAGCACAGGGTAGTGGGA	0.672																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	NSCLC(4;32 234 1864 2492 3259 13747 17376)	uc001ffv.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(172-174)CTG>TTG		SHC-transforming protein 1 isoform 1							22.0	24.0	23.0					1																	154942831		2201	4291	6492	SO:0001819	synonymous_variant	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154942831G>A	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.172C>T	1.37:g.154942831G>A						SHC1_uc001ffz.1_5'Flank|SHC1_uc001ffw.2_Silent_p.L58L|SHC1_uc001ffx.2_Intron|SHC1_uc001ffy.2_Intron	p.L58L	NM_183001	NP_892113	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	393	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		58					B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Silent	SNP	ENST00000368445.5	37	c.172C>T	CCDS30881.1																																																																																				0.672	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		3	41	0	0	0	0.009096	0	3	41				
KIAA0907	22889	broad.mit.edu	37	1	155891353	155891353	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:155891353T>C	ENST00000368321.3	-	10	1102	c.1079A>G	c.(1078-1080)tAt>tGt	p.Y360C	KIAA0907_ENST00000482337.1_Intron|KIAA0907_ENST00000368319.3_Intron|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Y360C|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	360	Pro-rich.						RNA binding (GO:0003723)	p.Y360C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACCAGACTGATAGCCATTGGA	0.488																																							uc001fmi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1078-1080)TAT>TGT		hypothetical protein LOC22889							129.0	124.0	126.0					1																	155891353		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155891353T>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1079A>G	1.37:g.155891353T>C	ENSP00000357304:p.Tyr360Cys					KIAA0907_uc001fmj.1_Missense_Mutation_p.Y360C|KIAA0907_uc009wrk.1_Missense_Mutation_p.Y217C|KIAA0907_uc009wrl.1_Intron|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Intron	p.Y360C	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		10	1103	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		360			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1079A>G	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225016	0.58668	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	.	.	.	5.62	5.62	0.85841	.	0.126916	0.56097	D	0.000033	T	0.43942	0.1270	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.60345	0.873;0.823	T	0.49341	-0.8950	9	0.46703	T	0.11	-7.3629	11.2756	0.49165	0.1367:0.0:0.0:0.8633	.	360;360	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	C	360	.	ENSP00000357303:Y360C	Y	-	2	0	KIAA0907	154157977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.551000	0.45820	2.136000	0.66102	0.402000	0.26972	TAT		0.488	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		20	86	0	0	0	0.010504	0	20	86				
IGSF9	57549	broad.mit.edu	37	1	159900162	159900162	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:159900162C>T	ENST00000368094.1	-	15	2078	c.1881G>A	c.(1879-1881)ccG>ccA	p.P627P	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.P611P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	627	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.P611P(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGACCCCGCGGAGGGGACA	0.652																																							uc001fur.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(1879-1881)CCG>CCA		immunoglobulin superfamily, member 9 isoform a							53.0	61.0	58.0					1																	159900162		2202	4297	6499	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159900162C>T	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1881G>A	1.37:g.159900162C>T						IGSF9_uc001fuq.2_Silent_p.P611P|IGSF9_uc001fup.2_5'UTR	p.P627P	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	2079	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	627			Fibronectin type-III 2.|Extracellular (Potential).			Silent	SNP	ENST00000368094.1	37	c.1881G>A	CCDS44254.1																																																																																				0.652	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		26	78	0	0	0	0.021523	0	26	78				
F5	2153	broad.mit.edu	37	1	169512220	169512220	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:169512220A>G	ENST00000367797.3	-	13	2309	c.2108T>C	c.(2107-2109)gTc>gCc	p.V703A	F5_ENST00000367796.3_Missense_Mutation_p.V708A	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	703	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.V703A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTAGCCATGACTGTAGATTC	0.413																																							uc001ggg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2107-2109)GTC>GCC		coagulation factor V precursor	Drotrecogin alfa(DB00055)						220.0	212.0	214.0					1																	169512220		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169512220A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2108T>C	1.37:g.169512220A>G	ENSP00000356771:p.Val703Ala						p.V703A	NM_000130	NP_000121	P12259	FA5_HUMAN			13	2253	-	all_hematologic(923;0.208)		703			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2108T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	1.106	-0.659657	0.03454	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98234	-4.81;-4.81	5.98	-1.56	0.08532	.	2.263860	0.01961	N	0.043395	D	0.86615	0.5975	N	0.11560	0.145	0.22253	N	0.999257	B	0.02656	0.0	B	0.04013	0.001	D	0.87932	0.2711	9	0.11794	T	0.64	2.9505	6.9728	0.24658	0.5803:0.1298:0.2899:0.0	.	703	P12259	FA5_HUMAN	A	703;708	ENSP00000356771:V703A;ENSP00000356770:V708A	ENSP00000356770:V708A	V	-	2	0	F5	167778844	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.177000	0.09796	-0.075000	0.12798	-1.182000	0.01712	GTC		0.413	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		15	300	0	0	0	0.020292	0	15	300				
PRRC2C	23215	broad.mit.edu	37	1	171510842	171510842	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:171510842C>T	ENST00000338920.4	+	16	4468	c.4231C>T	c.(4231-4233)Cga>Tga	p.R1411*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.R1411*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.R1413*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.R1413*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1411	Arg-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R1413*(2)									AAAATTTGAGCGAAAATTTGA	0.488																																							uc010pmg.1		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(4231-4233)CGA>TGA		HBxAg transactivated protein 2							42.0	40.0	41.0					1																	171510842		2203	4300	6503	SO:0001587	stop_gained	23215						protein C-terminus binding	g.chr1:171510842C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4231C>T	1.37:g.171510842C>T	ENSP00000343629:p.Arg1411*					BAT2L2_uc010pmh.1_Nonsense_Mutation_p.R388*	p.R1411*	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	4497	+			1411			Arg-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	37	c.4231C>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	45	11.682488	0.99591	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.	.	.	4.93	3.02	0.34903	.	0.000000	0.39083	N	0.001469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3449	0.60566	0.5884:0.4116:0.0:0.0	.	.	.	.	X	1413;1412;1411;1413;1411;1168	.	ENSP00000343629:R1411X	R	+	1	2	PRRC2C	169777466	0.989000	0.36119	0.993000	0.49108	0.984000	0.73092	1.621000	0.36986	0.575000	0.29434	-0.175000	0.13238	CGA		0.488	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		9	31	0	0	0	0.004482	0	9	31				
HMCN1	83872	broad.mit.edu	37	1	185897775	185897775	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:185897775G>A	ENST00000271588.4	+	10	1757	c.1528G>A	c.(1528-1530)Gca>Aca	p.A510T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A510T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	510	Ig-like C2-type 1.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A510T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACTGGACGGGCACAGACATT	0.413																																							uc001grq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(1528-1530)GCA>ACA		hemicentin 1 precursor							193.0	174.0	180.0					1																	185897775		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185897775G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1528G>A	1.37:g.185897775G>A	ENSP00000271588:p.Ala510Thr						p.A510T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			10	1757	+			510			Ig-like C2-type 1.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1528G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276480	0.95459	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.40225	1.04;1.04	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	M	0.81341	2.54	0.80722	D	1	D	0.65815	0.995	D	0.69824	0.966	T	0.67166	-0.5739	10	0.40728	T	0.16	.	19.299	0.94136	0.0:0.0:1.0:0.0	.	510	Q96RW7	HMCN1_HUMAN	T	510	ENSP00000271588:A510T;ENSP00000356462:A510T	ENSP00000271588:A510T	A	+	1	0	HMCN1	184164398	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	7.264000	0.78432	2.549000	0.85964	0.644000	0.83932	GCA		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		53	90	0	0	0	0.01441	0	53	90				
RGS2	5997	broad.mit.edu	37	1	192778207	192778207	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:192778207A>T	ENST00000235382.5	+	1	37	c.6A>T	c.(4-6)caA>caT	p.Q2H	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	2					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.Q2H(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5						CGATAATGCAAAGTGCTATGT	0.607																																					Pancreas(71;51 2183 4981)	Pancreas(71;51 2183 4981)	uc001gsl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(4-6)CAA>CAT		regulator of G-protein signaling 2							137.0	124.0	129.0					1																	192778207		2203	4300	6503	SO:0001583	missense	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192778207A>T	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.6A>T	1.37:g.192778207A>T	ENSP00000235382:p.Gln2His						p.Q2H	NM_002923	NP_002914	P41220	RGS2_HUMAN			1	39	+			2					Q6I9U5	Missense_Mutation	SNP	ENST00000235382.5	37	c.6A>T	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.101584	0.37048	.	.	ENSG00000116741	ENST00000235382	T	0.72725	-0.68	4.62	0.954	0.19595	.	0.110419	0.40222	N	0.001143	T	0.43634	0.1256	L	0.27053	0.805	0.33231	D	0.555868	P	0.41214	0.742	B	0.26416	0.069	T	0.51084	-0.8750	10	0.52906	T	0.07	.	3.287	0.06935	0.5545:0.0:0.2775:0.168	.	2	P41220	RGS2_HUMAN	H	2	ENSP00000235382:Q2H	ENSP00000235382:Q2H	Q	+	3	2	RGS2	191044830	0.998000	0.40836	0.992000	0.48379	0.360000	0.29518	0.489000	0.22387	0.056000	0.16144	0.482000	0.46254	CAA		0.607	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		12	28	0	0	0	0.010729	0	12	28				
DISP1	84976	broad.mit.edu	37	1	223178044	223178044	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:223178044T>G	ENST00000284476.6	+	8	3469	c.3305T>G	c.(3304-3306)gTt>gGt	p.V1102G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1102					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.V1102G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCCTCCACAGTTCTAGCTTAC	0.562																																							uc001hnu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3304-3306)GTT>GGT		dispatched A							70.0	64.0	66.0					1																	223178044		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178044T>G	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3305T>G	1.37:g.223178044T>G	ENSP00000284476:p.Val1102Gly						p.V1102G	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3452	+			1102					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.3305T>G	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422566	0.62622	.	.	ENSG00000154309	ENST00000284476	T	0.14022	2.54	5.95	5.95	0.96441	.	0.225055	0.44688	D	0.000438	T	0.41650	0.1168	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.32428	-0.9907	10	0.59425	D	0.04	-30.5331	16.4052	0.83662	0.0:0.0:0.0:1.0	.	1102	Q96F81	DISP1_HUMAN	G	1102	ENSP00000284476:V1102G	ENSP00000284476:V1102G	V	+	2	0	DISP1	221244667	1.000000	0.71417	0.435000	0.26784	0.271000	0.26615	7.991000	0.88244	2.279000	0.76181	0.402000	0.26972	GTT		0.562	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		30	21	0	0	0	0.008361	0	30	21				
OR51F1	256892	broad.mit.edu	37	11	4790747	4790747	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr11:4790747T>C	ENST00000380383.1	-	1	421	c.422A>G	c.(421-423)tAc>tGc	p.Y141C	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.Y134C|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y134C(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AATGGTAGTGTACCTCAGAGG	0.423																																							uc010qyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(400-402)TAC>TGC		olfactory receptor, family 51, subfamily F,							81.0	82.0	82.0					11																	4790747		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790747T>C	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.422A>G	11.37:g.4790747T>C	ENSP00000369744:p.Tyr141Cys						p.Y134C	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	401	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	134						Missense_Mutation	SNP	ENST00000380383.1	37	c.401A>G		.	.	.	.	.	.	.	.	.	.	T	13.42	2.232245	0.39498	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.33865	1.39;1.39	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.127841	0.35739	N	0.003017	T	0.77046	0.4073	H	0.99740	4.74	0.43890	D	0.996519	D	0.89917	1.0	D	0.91635	0.999	D	0.87040	0.2140	10	0.87932	D	0	.	13.5488	0.61719	0.0:0.0:0.0:1.0	.	141	A6NGY5	O51F1_HUMAN	C	134;141	ENSP00000345163:Y134C;ENSP00000369744:Y141C	ENSP00000345163:Y134C	Y	-	2	0	OR51F1	4747323	1.000000	0.71417	0.390000	0.26220	0.084000	0.17831	7.275000	0.78548	2.078000	0.62432	0.482000	0.46254	TAC		0.423	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		12	41	0	0	0	0.016723	0	12	41				
CCDC67	159989	broad.mit.edu	37	11	93090193	93090193	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr11:93090193A>G	ENST00000298050.3	+	4	381	c.281A>G	c.(280-282)cAa>cGa	p.Q94R	CCDC67_ENST00000527307.1_Missense_Mutation_p.Q94R	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	94					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)		p.Q86R(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GGACAACTACAAAGCCTAAAG	0.289																																							uc001pdq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(280-282)CAA>CGA		coiled-coil domain containing 67							36.0	33.0	34.0					11																	93090193		1792	4057	5849	SO:0001583	missense	159989							g.chr11:93090193A>G	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.281A>G	11.37:g.93090193A>G	ENSP00000298050:p.Gln94Arg					CCDC67_uc001pdo.1_Missense_Mutation_p.Q94R|CCDC67_uc001pdp.2_Missense_Mutation_p.Q94R	p.Q94R	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			4	381	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	94			Potential.		Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.281A>G	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075165	0.55646	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.72	5.72	0.89469	.	0.367473	0.27797	N	0.017805	T	0.35008	0.0917	L	0.50333	1.59	0.26172	N	0.97985	D;D;D	0.69078	0.997;0.993;0.997	D;P;P	0.66497	0.944;0.796;0.844	T	0.19811	-1.0294	10	0.22706	T	0.39	.	11.1583	0.48501	0.9261:0.0:0.0739:0.0	.	94;94;86	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	R	94	ENSP00000432111:Q94R;ENSP00000298050:Q94R;ENSP00000434635:Q94R;ENSP00000433002:Q94R	ENSP00000298050:Q94R	Q	+	2	0	CCDC67	92729841	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	4.149000	0.58091	2.184000	0.69523	0.533000	0.62120	CAA		0.289	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		4	7	0	0	0	0.009096	0	4	7				
HEPHL1	341208	broad.mit.edu	37	11	93779059	93779059	+	Missense_Mutation	SNP	G	G	A	rs200060606		TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr11:93779059G>A	ENST00000315765.9	+	2	399	c.391G>A	c.(391-393)Gtt>Att	p.V131I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	131	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.V131I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCCACATGGCGTTTTCTACAA	0.403																																							uc001pep.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(391-393)GTT>ATT		hephaestin-like 1 precursor		G	ILE/VAL	0,3722		0,0,1861	73.0	73.0	73.0		391	5.0	1.0	11		73	4,8202		0,4,4099	yes	missense	HEPHL1	NM_001098672.1	29	0,4,5960	AA,AG,GG		0.0487,0.0,0.0335	possibly-damaging	131/1160	93779059	4,11924	1861	4103	5964	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93779059G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.391G>A	11.37:g.93779059G>A	ENSP00000313699:p.Val131Ile						p.V131I	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			2	548	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	131			Plastocyanin-like 1.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.391G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702265	0.88924	0.0	4.87E-4	ENSG00000181333	ENST00000315765	D	0.99405	-5.84	4.97	4.97	0.65823	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.127279	0.52532	D	0.000073	D	0.98576	0.9524	L	0.33245	0.995	0.51482	D	0.999922	D	0.56287	0.975	P	0.52189	0.692	D	0.98784	1.0733	10	0.27785	T	0.31	.	17.5561	0.87890	0.0:0.0:1.0:0.0	.	131	Q6MZM0	HPHL1_HUMAN	I	131	ENSP00000313699:V131I	ENSP00000313699:V131I	V	+	1	0	HEPHL1	93418707	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	5.394000	0.66285	2.446000	0.82766	0.650000	0.86243	GTT		0.403	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		9	39	0	0	0	0.010729	0	9	39				
WBP11	51729	broad.mit.edu	37	12	14943683	14943683	+	Splice_Site	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr12:14943683C>A	ENST00000261167.2	-	10	1249	c.1016G>T	c.(1015-1017)gGt>gTt	p.G339V		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	339					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G339V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GATTTCTTGACCTGAAAGAAA	0.378																																							uc001rci.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1015-1017)GGT>GTT		WW domain binding protein 11							84.0	84.0	84.0					12																	14943683		2203	4300	6503	SO:0001630	splice_region_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14943683C>A	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1016-1G>T	12.37:g.14943683C>A							p.G339V	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			10	1177	-			339					Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.1016G>T	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102753	0.56183	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	D	0.90069	-2.61	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.92675	0.6153	10	0.87932	D	0	.	15.5207	0.75862	0.0:1.0:0.0:0.0	.	339	Q9Y2W2	WBP11_HUMAN	V	339	ENSP00000442868:G339V	ENSP00000261167:G339V	G	-	2	0	WBP11	14834950	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.227000	0.72282	2.532000	0.85374	0.655000	0.94253	GGT		0.378	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312	Missense_Mutation	20	89	1	0	2.89027e-11	0.014323	3.53633e-11	20	89				
TENC1	23371	broad.mit.edu	37	12	53455027	53455027	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr12:53455027G>C	ENST00000314250.6	+	20	3627	c.3337G>C	c.(3337-3339)Gat>Cat	p.D1113H	TENC1_ENST00000552570.1_Missense_Mutation_p.D1113H|TENC1_ENST00000546602.1_Missense_Mutation_p.D1016H|TENC1_ENST00000379902.3_Missense_Mutation_p.D989H|TENC1_ENST00000549700.1_Missense_Mutation_p.D1048H|TENC1_ENST00000451358.1_Missense_Mutation_p.D1103H|TENC1_ENST00000314276.3_Missense_Mutation_p.D1123H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1113	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.D1113H(1)|p.D1123H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TCTGCTCTCAGATAATGTCCC	0.617																																							uc001sbp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3337-3339)GAT>CAT		tensin like C1 domain containing phosphatase							51.0	62.0	59.0					12																	53455027		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53455027G>C	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3337G>C	12.37:g.53455027G>C	ENSP00000319684:p.Asp1113His					TENC1_uc001sbl.2_Missense_Mutation_p.D989H|TENC1_uc001sbn.2_Missense_Mutation_p.D1123H|TENC1_uc001sbq.2_Missense_Mutation_p.D511H|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.D608H|TENC1_uc001sbs.2_5'Flank	p.D1113H	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			20	3472	+			1113			Pro-rich.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.3337G>C	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607168	0.46527	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	4.46	4.46	0.54185	.	0.162448	0.39341	N	0.001386	T	0.74245	0.3691	L	0.58101	1.795	0.09310	N	1	D;D;D;D	0.76494	0.999;0.986;0.99;0.997	D;P;D;D	0.83275	0.996;0.895;0.93;0.973	T	0.65685	-0.6108	10	0.72032	D	0.01	-5.591	12.8155	0.57663	0.0:0.0:1.0:0.0	.	1113;1016;1113;1123	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	H	989;1123;1113;1103;1016;1113;1048	ENSP00000369232:D989H;ENSP00000319756:D1123H;ENSP00000319684:D1113H;ENSP00000393362:D1103H;ENSP00000449363:D1016H;ENSP00000447021:D1113H;ENSP00000449361:D1048H	ENSP00000319684:D1113H	D	+	1	0	TENC1	51741294	0.885000	0.30320	0.066000	0.19879	0.109000	0.19521	2.477000	0.45180	2.491000	0.84063	0.561000	0.74099	GAT		0.617	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		27	52	0	0	0	0.004656	0	27	52				
MGAT4C	25834	broad.mit.edu	37	12	86373716	86373716	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr12:86373716A>T	ENST00000604798.1	-	8	1992	c.788T>A	c.(787-789)cTc>cAc	p.L263H	MGAT4C_ENST00000332156.1_Missense_Mutation_p.L263H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L263H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L263H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L263H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L292H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	263					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.L263H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGAATGATAGAGTTTACCAAT	0.373																																							uc001tai.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(787-789)CTC>CAC		alpha-1,3-mannosyl-glycoprotein							70.0	67.0	68.0					12																	86373716		2203	4299	6502	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373716A>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.788T>A	12.37:g.86373716A>T	ENSP00000474896:p.Leu263His					MGAT4C_uc001tal.3_Missense_Mutation_p.L263H|MGAT4C_uc001taj.3_Missense_Mutation_p.L263H|MGAT4C_uc001tak.3_Missense_Mutation_p.L263H|MGAT4C_uc010sum.1_Missense_Mutation_p.L287H|MGAT4C_uc001tah.3_Missense_Mutation_p.L263H	p.L263H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	2038	-			263			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.788T>A	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.028363	0.54790	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34	5.79	5.79	0.91817	.	0.085009	0.47093	D	0.000247	T	0.78149	0.4238	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83148	-0.0105	10	0.87932	D	0	-3.7815	16.1415	0.81528	1.0:0.0:0.0:0.0	.	292;263	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	263;292;263;263;263;263;263	ENSP00000331664:L263H;ENSP00000376900:L292H;ENSP00000449022:L263H;ENSP00000446647:L263H;ENSP00000447253:L263H;ENSP00000449172:L263H	ENSP00000331664:L263H	L	-	2	0	MGAT4C	84897847	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	9.335000	0.96500	2.198000	0.70561	0.533000	0.62120	CTC		0.373	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		39	48	0	0	0	0.00623	0	39	48				
FAM124A	220108	broad.mit.edu	37	13	51855250	51855250	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr13:51855250C>A	ENST00000322475.8	+	4	1634	c.1499C>A	c.(1498-1500)gCt>gAt	p.A500D	FAM124A_ENST00000280057.6_Missense_Mutation_p.A536D	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	500								p.A536D(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GCTCCCCCAGCTCCCAGCACC	0.617																																							uc001vfg.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1498-1500)GCT>GAT		hypothetical protein LOC220108							92.0	83.0	86.0					13																	51855250		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51855250C>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.1499C>A	13.37:g.51855250C>A	ENSP00000324625:p.Ala500Asp					FAM124A_uc001vff.1_Missense_Mutation_p.A536D	p.A500D	NM_145019	NP_659456	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	4	1630	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	500					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.1499C>A	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014691	0.54468	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.50001	0.77;0.76	5.56	3.78	0.43462	.	0.701412	0.12460	N	0.466969	T	0.44117	0.1278	L	0.54323	1.7	0.09310	N	1	B;B	0.14012	0.005;0.009	B;B	0.16722	0.011;0.016	T	0.40440	-0.9563	10	0.62326	D	0.03	-16.7765	9.6449	0.39861	0.2869:0.5745:0.1386:0.0	.	500;536	Q86V42;Q86V42-2	F124A_HUMAN;.	D	500;536	ENSP00000324625:A500D;ENSP00000280057:A536D	ENSP00000280057:A536D	A	+	2	0	FAM124A	50753251	0.023000	0.18921	0.001000	0.08648	0.008000	0.06430	2.186000	0.42593	0.647000	0.30713	0.650000	0.86243	GCT		0.617	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		14	43	1	0	6.31663e-08	0.003163	7.38123e-08	14	43				
TEP1	7011	broad.mit.edu	37	14	20871907	20871907	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:20871907T>G	ENST00000262715.5	-	6	1209	c.1169A>C	c.(1168-1170)cAc>cCc	p.H390P	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	390	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.H390P(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGGCGGGGGTGTCTCTTGGC	0.627																																							uc001vxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1168-1170)CAC>CCC		telomerase-associated protein 1							68.0	78.0	74.0					14																	20871907		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20871907T>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1169A>C	14.37:g.20871907T>G	ENSP00000262715:p.His390Pro					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Intron	p.H390P	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	6	1209	-	all_cancers(95;0.00123)	all_lung(585;0.235)	390			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1169A>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.417857	0.42918	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.14266	2.52	5.54	2.72	0.32119	TROVE (2);	0.475270	0.23102	N	0.051916	T	0.06005	0.0156	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.37686	-0.9695	10	0.27785	T	0.31	-7.7791	6.2821	0.21013	0.0:0.6791:0.1515:0.1694	.	390	Q99973	TEP1_HUMAN	P	390	ENSP00000262715:H390P	ENSP00000262715:H390P	H	-	2	0	TEP1	19941747	0.000000	0.05858	0.001000	0.08648	0.403000	0.30841	0.030000	0.13688	0.286000	0.22352	-0.242000	0.12053	CAC		0.627	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	63	0	0	0	0.008871	0	5	63				
LRFN5	145581	broad.mit.edu	37	14	42356002	42356002	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:42356002G>T	ENST00000298119.4	+	3	1363	c.174G>T	c.(172-174)ttG>ttT	p.L58F	LRFN5_ENST00000554171.1_Missense_Mutation_p.L58F|LRFN5_ENST00000554120.1_Missense_Mutation_p.L58F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	58						integral component of membrane (GO:0016021)		p.L58F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACTGCGGTTGGCAGACAATT	0.383										HNSCC(30;0.082)																													uc001wvm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(172-174)TTG>TTT		leucine rich repeat and fibronectin type III							59.0	55.0	56.0					14																	42356002		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356002G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.174G>T	14.37:g.42356002G>T	ENSP00000298119:p.Leu58Phe	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.L58F	p.L58F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1372	+			58			Extracellular (Potential).|LRR 1.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.174G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458999	0.43634	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.61980	0.06;0.06;0.06	5.56	5.56	0.83823	.	0.000000	0.44902	D	0.000413	D	0.84138	0.5406	M	0.92219	3.285	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87803	0.2626	10	0.87932	D	0	.	17.0193	0.86429	0.0:0.0:1.0:0.0	.	58;58	G3V364;Q96NI6	.;LRFN5_HUMAN	F	58	ENSP00000298119:L58F;ENSP00000451897:L58F;ENSP00000451067:L58F	ENSP00000298119:L58F	L	+	3	2	LRFN5	41425752	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.126000	0.31344	2.595000	0.87683	0.650000	0.86243	TTG		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		18	26	1	0	0.00121646	0.008871	0.00129094	18	26				
PLEKHH1	57475	broad.mit.edu	37	14	68042651	68042651	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:68042651C>T	ENST00000329153.5	+	16	2413	c.2281C>T	c.(2281-2283)Cac>Tac	p.H761Y	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	761	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoskeleton (GO:0005856)		p.H761Y(1)|p.H800Y(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCTTTCCTCCCACTGCACCCT	0.592																																							uc001xjl.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2281-2283)CAC>TAC		pleckstrin homology domain containing, family H							70.0	75.0	74.0					14																	68042651		2058	4198	6256	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68042651C>T	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2281C>T	14.37:g.68042651C>T	ENSP00000330278:p.His761Tyr					PLEKHH1_uc010tsw.1_Missense_Mutation_p.H329Y|PLEKHH1_uc001xjn.1_Missense_Mutation_p.H276Y|PLEKHH1_uc010tsx.1_5'Flank	p.H761Y	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	16	2423	+			761			PH 2.		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.2281C>T	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860876	0.91433	.	.	ENSG00000054690	ENST00000329153	T	0.22743	1.94	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	M	0.66939	2.045	0.80722	D	1	D	0.64830	0.994	P	0.58331	0.837	T	0.10291	-1.0636	10	0.33141	T	0.24	.	18.2133	0.89877	0.0:1.0:0.0:0.0	.	761	Q9ULM0	PKHH1_HUMAN	Y	761	ENSP00000330278:H761Y	ENSP00000330278:H761Y	H	+	1	0	PLEKHH1	67112404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.598000	0.82745	2.595000	0.87683	0.549000	0.68633	CAC		0.592	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		10	24	0	0	0	0.008291	0	10	24				
SPATA7	55812	broad.mit.edu	37	14	88904759	88904759	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:88904759A>C	ENST00000393545.4	+	12	2082	c.1793A>C	c.(1792-1794)gAt>gCt	p.D598A	SPATA7_ENST00000356583.5_Missense_Mutation_p.D566A|SPATA7_ENST00000045347.7_Missense_Mutation_p.D457A|SPATA7_ENST00000556553.1_Missense_Mutation_p.D566A	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	598					response to stimulus (GO:0050896)|visual perception (GO:0007601)			p.D598A(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TGCCCTTTGGATGTTTAATCT	0.328																																							uc001xwq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1792-1794)GAT>GCT		spermatogenesis-associated protein 7 isoform a							32.0	29.0	30.0					14																	88904759		2203	4298	6501	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88904759A>C	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1793A>C	14.37:g.88904759A>C	ENSP00000377176:p.Asp598Ala					SPATA7_uc001xwr.2_Missense_Mutation_p.D566A|SPATA7_uc001xws.2_Missense_Mutation_p.D534A|SPATA7_uc001xwt.2_Missense_Mutation_p.D492A|SPATA7_uc001xwu.2_Missense_Mutation_p.D113A	p.D598A	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN			12	1944	+			598					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.1793A>C	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	A	6.362	0.434837	0.12045	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000045347	T;T;T;T	0.51325	1.19;1.26;1.19;0.71	5.8	3.22	0.36961	.	0.641602	0.13818	N	0.360617	T	0.31009	0.0783	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.14012	0.002;0.009;0.009;0.009	B;B;B;B	0.14578	0.003;0.011;0.011;0.011	T	0.27191	-1.0081	10	0.87932	D	0	-1.2407	4.6754	0.12710	0.6955:0.1825:0.122:0.0	.	457;566;566;598	Q9P0W8-3;A8K3L6;Q9P0W8-2;Q9P0W8	.;.;.;SPAT7_HUMAN	A	566;598;566;457	ENSP00000451128:D566A;ENSP00000377176:D598A;ENSP00000348991:D566A;ENSP00000045347:D457A	ENSP00000045347:D457A	D	+	2	0	SPATA7	87974512	0.938000	0.31826	0.001000	0.08648	0.009000	0.06853	1.755000	0.38379	0.355000	0.24131	-0.313000	0.08912	GAT		0.328	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			15	36	0	0	0	0.020292	0	15	36				
KIF26A	26153	broad.mit.edu	37	14	104642531	104642531	+	Missense_Mutation	SNP	G	G	A	rs574213052		TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:104642531G>A	ENST00000423312.2	+	12	3406	c.3406G>A	c.(3406-3408)Gac>Aac	p.D1136N	KIF26A_ENST00000315264.7_Missense_Mutation_p.D997N	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1136					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.D1136N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTTCAGCCCCGACTCGCTGGC	0.697													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13926	0.0		0.0	False		,,,				2504	0.0						uc001yos.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(3406-3408)GAC>AAC		kinesin family member 26A							5.0	7.0	6.0					14																	104642531		1738	3851	5589	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642531G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3406G>A	14.37:g.104642531G>A	ENSP00000388241:p.Asp1136Asn						p.D1136N	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	3406	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1136					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.3406G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	2.661	-0.279741	0.05642	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78364	-1.17;-1.17	3.76	-0.258	0.12975	.	.	.	.	.	T	0.55497	0.1924	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.37753	-0.9692	9	0.38643	T	0.18	.	4.5371	0.12038	0.3925:0.0:0.4579:0.1497	.	1136	Q9ULI4	KI26A_HUMAN	N	1136;997	ENSP00000388241:D1136N;ENSP00000325452:D997N	ENSP00000325452:D997N	D	+	1	0	KIF26A	103712284	0.007000	0.16637	0.000000	0.03702	0.087000	0.18053	1.082000	0.30803	-0.274000	0.09232	0.313000	0.20887	GAC		0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			3	9	0	0	0	0.009096	0	3	9				
AHNAK2	113146	broad.mit.edu	37	14	105414090	105414090	+	Silent	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:105414090C>A	ENST00000333244.5	-	7	7817	c.7698G>T	c.(7696-7698)ctG>ctT	p.L2566L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2566						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L2566L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCACCTTGGGCAGGTGCCCTT	0.632																																							uc010axc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(7696-7698)CTG>CTT		AHNAK nucleoprotein 2							112.0	124.0	120.0					14																	105414090		1850	4084	5934	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414090C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7698G>T	14.37:g.105414090C>A						AHNAK2_uc001ypx.2_Silent_p.L2466L	p.L2566L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7818	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2566					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7698G>T	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		79	164	1	0	6.86016e-32	0.01441	8.80811e-32	79	164				
GP2	2813	broad.mit.edu	37	16	20327347	20327347	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr16:20327347G>T	ENST00000381362.4	-	10	1517	c.1441C>A	c.(1441-1443)Caa>Aaa	p.Q481K	GP2_ENST00000341642.5_Missense_Mutation_p.Q331K|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Missense_Mutation_p.Q478K|GP2_ENST00000381360.5_Missense_Mutation_p.Q334K	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	481	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.Q478K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTGCGGACTTGACTTCTTGAG	0.483																																							uc002dgv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1441-1443)CAA>AAA		zymogen granule membrane glycoprotein 2 isoform							112.0	104.0	107.0					16																	20327347		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20327347G>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1441C>A	16.37:g.20327347G>T	ENSP00000370767:p.Gln481Lys					GP2_uc002dgw.2_Missense_Mutation_p.Q478K|GP2_uc002dgx.2_Missense_Mutation_p.Q334K|GP2_uc002dgy.2_Missense_Mutation_p.Q331K	p.Q481K	NM_001007240	NP_001007241	P55259	GP2_HUMAN			10	1524	-			481			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.1441C>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986649	0.53934	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;T;T	0.89875	-2.58;-2.58;-1.35;-1.36	5.37	0.52	0.17040	Zona pellucida sperm-binding protein (1);	.	.	.	.	D	0.83234	0.5210	L	0.39397	1.21	0.09310	N	1	B;P;B;B	0.34615	0.202;0.459;0.4;0.128	B;B;B;B	0.38264	0.205;0.269;0.075;0.062	T	0.71334	-0.4624	9	0.38643	T	0.18	3.1082	7.234	0.26059	0.0:0.2739:0.3442:0.3819	.	331;459;478;481	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	K	478;481;334;331;459	ENSP00000304044:Q478K;ENSP00000370767:Q481K;ENSP00000370765:Q334K;ENSP00000343861:Q331K	ENSP00000304044:Q478K	Q	-	1	0	GP2	20234848	0.001000	0.12720	0.000000	0.03702	0.970000	0.65996	0.764000	0.26532	0.127000	0.18452	0.655000	0.94253	CAA		0.483	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		12	73	1	0	0.000151284	0.016723	0.000165617	12	73				
TMEM159	57146	broad.mit.edu	37	16	21172524	21172524	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr16:21172524G>C	ENST00000233047.4	+	2	489	c.21G>C	c.(19-21)caG>caC	p.Q7H	TMEM159_ENST00000574092.1_3'UTR|DNAH3_ENST00000415178.1_5'Flank|TMEM159_ENST00000451578.2_Missense_Mutation_p.Q7H|TMEM159_ENST00000572258.1_Missense_Mutation_p.Q7H|DNAH3_ENST00000261383.3_5'Flank|TMEM159_ENST00000572599.1_Missense_Mutation_p.Q7H|TMEM159_ENST00000261388.3_Missense_Mutation_p.Q7H			Q96B96	TM159_HUMAN	transmembrane protein 159	7						integral component of membrane (GO:0016021)		p.Q7H(1)		large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		AGGAGCCCCAGAGTATCTCAA	0.453																																							uc002dif.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(19-21)CAG>CAC		transmembrane protein 159							81.0	82.0	82.0					16																	21172524		2201	4300	6501	SO:0001583	missense	57146					integral to membrane		g.chr16:21172524G>C	AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.21G>C	16.37:g.21172524G>C	ENSP00000233047:p.Gln7His					DNAH3_uc010vbe.1_5'Flank|TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Missense_Mutation_p.Q7H|TMEM159_uc002dih.3_Missense_Mutation_p.Q7H	p.Q7H	NM_020422	NP_065155	Q96B96	TM159_HUMAN		GBM - Glioblastoma multiforme(48;0.0972)	2	382	+			7					A6NMA9|B4DEC1|O00323	Missense_Mutation	SNP	ENST00000233047.4	37	c.21G>C	CCDS10595.1	.	.	.	.	.	.	.	.	.	.	G	4.675	0.125582	0.08931	.	.	ENSG00000011638	ENST00000233047;ENST00000261388;ENST00000451578	T;T;T	0.23754	1.92;1.92;1.89	6.08	-12.2	0.00006	.	1.041630	0.07492	N	0.905813	T	0.10165	0.0249	N	0.08118	0	0.09310	N	1	B;B	0.29571	0.249;0.249	B;B	0.30495	0.116;0.073	T	0.47275	-0.9130	10	0.35671	T	0.21	-9.6575	9.6665	0.39988	0.5723:0.2819:0.0847:0.0611	.	7;7	B4DEC1;Q96B96	.;TM159_HUMAN	H	7	ENSP00000233047:Q7H;ENSP00000261388:Q7H;ENSP00000409879:Q7H	ENSP00000233047:Q7H	Q	+	3	2	TMEM159	21080025	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-3.824000	0.00357	-4.937000	0.00026	-0.136000	0.14681	CAG		0.453	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1	NM_020422		3	68	0	0	0	0.009096	0	3	68				
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATAAGATGCTGAGGAGGGGCC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(574-576)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							89.0	80.0	83.0					17																	7578275		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578275G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153*	p.Q192*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	768	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	192		Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.574C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	16	0	0	0	0.00499	0	15	16				
KRT20	54474	broad.mit.edu	37	17	39034573	39034573	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr17:39034573G>A	ENST00000167588.3	-	6	1004	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	321	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				ACTGGCTGCTGTAACGGGCCT	0.483																																							uc002hvl.2		NA																	0				large_intestine(1)|kidney(1)|skin(1)	3						c.(961-963)TAC>TAT		keratin 20							125.0	105.0	112.0					17																	39034573		2203	4300	6503	SO:0001819	synonymous_variant	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39034573G>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.963C>T	17.37:g.39034573G>A							p.Y321Y	NM_019010	NP_061883	P35900	K1C20_HUMAN			6	1005	-		Breast(137;0.000301)|Ovarian(249;0.15)	321			Rod.|Coil 2.		B2R6W7	Silent	SNP	ENST00000167588.3	37	c.963C>T	CCDS11379.1																																																																																				0.483	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			4	97	0	0	0	0.009096	0	4	97				
KRTAP9-8	83901	broad.mit.edu	37	17	39394662	39394662	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr17:39394662G>T	ENST00000254072.6	+	1	366	c.359G>T	c.(358-360)aGc>aTc	p.S120I		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	120	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)		p.S120I(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTAAACCAGAGCTGTGGCTCC	0.627																																							uc002hwh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(358-360)AGC>ATC		keratin associated protein 9.8							72.0	91.0	85.0					17																	39394662		2103	4300	6403	SO:0001583	missense	83901					keratin filament		g.chr17:39394662G>T	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.359G>T	17.37:g.39394662G>T	ENSP00000254072:p.Ser120Ile					KRTAP9-9_uc010wfq.1_Intron	p.S120I	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	393	+		Breast(137;0.000496)	120			15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Missense_Mutation	SNP	ENST00000254072.6	37	c.359G>T	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	9.707	1.155986	0.21454	.	.	ENSG00000187272	ENST00000254072	T	0.01397	4.94	1.29	0.291	0.15732	.	.	.	.	.	T	0.02688	0.0081	L	0.29908	0.895	0.09310	N	1	D	0.65815	0.995	D	0.63113	0.911	T	0.49542	-0.8929	9	0.66056	D	0.02	.	3.8018	0.08761	0.4486:0.0:0.5514:0.0	.	120	Q9BYQ0	KRA98_HUMAN	I	120	ENSP00000254072:S120I	ENSP00000254072:S120I	S	+	2	0	KRTAP9-8	36648188	0.624000	0.27102	0.059000	0.19551	0.069000	0.16628	0.923000	0.28757	0.112000	0.17975	-0.358000	0.07595	AGC		0.627	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			32	54	1	0	6.2361e-21	0.007835	7.90921e-21	32	54				
KRTAP9-4	85280	broad.mit.edu	37	17	39406331	39406331	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr17:39406331G>T	ENST00000334109.2	+	1	393	c.359G>T	c.(358-360)aGc>aTc	p.S120I		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	120	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.S120I(1)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTAAACCAGAGCTGTGGCTCC	0.602																																							uc002hwi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(358-360)AGC>ATC		keratin associated protein 9-4							178.0	175.0	176.0					17																	39406331		2203	4300	6503	SO:0001583	missense	85280					keratin filament		g.chr17:39406331G>T	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.359G>T	17.37:g.39406331G>T	ENSP00000334922:p.Ser120Ile					KRTAP9-9_uc010wfq.1_Intron	p.S120I	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	393	+		Breast(137;0.000496)	120			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	c.359G>T	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	5.945	0.358374	0.11239	.	.	ENSG00000241595	ENST00000334109	T	0.01178	5.22	1.12	0.101	0.14517	.	.	.	.	.	T	0.02156	0.0067	L	0.29908	0.895	0.09310	N	0.999997	D	0.71674	0.998	D	0.70487	0.969	T	0.51903	-0.8646	9	0.28530	T	0.3	.	3.7179	0.08445	0.4947:0.0:0.5053:0.0	.	120	Q9BYQ2	KRA94_HUMAN	I	120	ENSP00000334922:S120I	ENSP00000334922:S120I	S	+	2	0	KRTAP9-4	36659857	0.008000	0.16893	0.035000	0.18076	0.040000	0.13550	0.499000	0.22546	0.045000	0.15804	0.400000	0.26472	AGC		0.602	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			12	152	1	0	0.000151284	0.016723	0.000165617	12	152				
TCF3	6929	broad.mit.edu	37	19	1625599	1625599	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr19:1625599G>A	ENST00000262965.5	-	7	819	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	TCF3_ENST00000588136.1_Missense_Mutation_p.R159W|TCF3_ENST00000344749.5_Missense_Mutation_p.R159W|TCF3_ENST00000395423.3_Missense_Mutation_p.R108W|TCF3_ENST00000453954.2_Missense_Mutation_p.R75W	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R159W(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GCCGCTCTCCGCCGGGAGCTG	0.697			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																		uc002ltr.2		NA		Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	PBX1|HLF|TFPT		pre B-ALL		2	Substitution - Missense(2)		lung(2)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7						c.(475-477)CGG>TGG		transcription factor 3 isoform E12							10.0	13.0	12.0					19																	1625599		2179	4281	6460	SO:0001583	missense	6929				B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1625599G>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.475C>T	19.37:g.1625599G>A	ENSP00000262965:p.Arg159Trp					TCF3_uc002ltt.3_Missense_Mutation_p.R159W|TCF3_uc002ltq.2_Missense_Mutation_p.R108W|TCF3_uc002lts.1_Missense_Mutation_p.R75W	p.R159W	NM_003200	NP_003191	P15923	TFE2_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)	7	542	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	159					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.475C>T	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228974	0.58777	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.62105	0.05;0.05;0.05	4.52	3.39	0.38822	.	0.061584	0.64402	D	0.000006	T	0.78641	0.4315	M	0.86420	2.815	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;1.0	T	0.81113	-0.1080	10	0.87932	D	0	-10.2613	9.1101	0.36723	0.0:0.0:0.6831:0.3169	.	159;159;108	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	W	159;159;159;108	ENSP00000262965:R159W;ENSP00000344375:R159W;ENSP00000378813:R108W	ENSP00000262965:R159W	R	-	1	2	TCF3	1576599	0.958000	0.32768	0.996000	0.52242	0.169000	0.22640	2.031000	0.41117	2.049000	0.60858	0.561000	0.74099	CGG		0.697	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		4	10	0	0	0	0.009096	0	4	10				
ZNF676	163223	broad.mit.edu	37	19	22363197	22363197	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr19:22363197C>G	ENST00000397121.2	-	3	1639	c.1322G>C	c.(1321-1323)aGa>aCa	p.R441T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R441T(1)|p.R441K(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCATGAATTCTCTTGTGTTC	0.438																																							uc002nqs.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)		0						c.(1321-1323)AGA>ACA		zinc finger protein 676							89.0	90.0	89.0					19																	22363197		2084	4236	6320	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363197C>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1322G>C	19.37:g.22363197C>G	ENSP00000380310:p.Arg441Thr						p.R441T	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1640	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	441			C2H2-type 10.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1322G>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.811531	0.00600	.	.	ENSG00000196109	ENST00000397121	T	0.25414	1.8	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19805	0.0476	M	0.62016	1.91	0.25454	N	0.987979	P	0.35348	0.496	B	0.26310	0.068	T	0.04481	-1.0948	9	0.51188	T	0.08	.	6.037	0.19712	0.0:0.7919:0.0:0.2081	.	441	Q8N7Q3	ZN676_HUMAN	T	441	ENSP00000380310:R441T	ENSP00000380310:R441T	R	-	2	0	ZNF676	22155037	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-0.072000	0.11486	-1.149000	0.02843	-1.152000	0.01820	AGA		0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		32	67	0	0	0	0.013726	0	32	67				
ZNF419	79744	broad.mit.edu	37	19	58005450	58005450	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr19:58005450A>T	ENST00000221735.7	+	5	1711	c.1525A>T	c.(1525-1527)Atg>Ttg	p.M509L	ZNF419_ENST00000426954.2_Missense_Mutation_p.M497L|ZNF419_ENST00000415379.2_Missense_Mutation_p.M463L|ZNF419_ENST00000424930.2_Missense_Mutation_p.M510L|ZNF419_ENST00000347466.6_Missense_Mutation_p.M477L|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.M496L|ZNF419_ENST00000354197.4_Missense_Mutation_p.M441L			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M477L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CACTGGAGAAATGCAGTGATT	0.428																																							uc002qov.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1525-1527)ATG>TTG		zinc finger protein 419 isoform 2							56.0	59.0	58.0					19																	58005450		2188	4294	6482	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58005450A>T	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1525A>T	19.37:g.58005450A>T	ENSP00000221735:p.Met509Leu					ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.M510L|ZNF419_uc010etz.1_Missense_Mutation_p.M497L|ZNF419_uc010eua.1_Missense_Mutation_p.M496L|ZNF419_uc002qow.2_Missense_Mutation_p.M477L|ZNF419_uc010eub.1_Missense_Mutation_p.M464L|ZNF419_uc010euc.1_Missense_Mutation_p.M463L	p.M509L	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1765	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	509					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.1525A>T	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	A	9.254	1.041423	0.19669	.	.	ENSG00000105136	ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.05447	3.5;3.5;3.48;3.48;3.44;3.44;3.47	1.2	1.2	0.21068	Zinc finger, C2H2 (1);	.	.	.	.	T	0.03348	0.0097	N	0.04203	-0.255	0.09310	N	0.999992	B;B;P;P;P;P;P	0.39424	0.37;0.37;0.544;0.544;0.544;0.673;0.544	B;B;B;B;B;B;B	0.38755	0.145;0.145;0.145;0.145;0.145;0.281;0.145	T	0.43065	-0.9414	9	0.72032	D	0.01	.	7.8008	0.29174	1.0:0.0:0.0:0.0	.	463;463;496;497;510;477;509	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	L	510;497;441;496;477;463;509	ENSP00000388864:M510L;ENSP00000390916:M497L;ENSP00000346136:M441L;ENSP00000414709:M496L;ENSP00000299860:M477L;ENSP00000392129:M463L;ENSP00000221735:M509L	ENSP00000221735:M509L	M	+	1	0	ZNF419	62697262	0.003000	0.15002	0.026000	0.17262	0.084000	0.17831	0.435000	0.21510	0.774000	0.33427	0.172000	0.16884	ATG		0.428	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		37	76	0	0	0	0.021022	0	37	76				
ALK	238	broad.mit.edu	37	2	29456482	29456482	+	Silent	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr2:29456482A>G	ENST00000389048.3	-	14	3342	c.2436T>C	c.(2434-2436)caT>caC	p.H812H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	812					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.H812H(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CTGCCCACTCATGCACGCTTC	0.488			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(2434-2436)CAT>CAC		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						208.0	179.0	189.0					2																	29456482		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29456482A>G	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2436T>C	2.37:g.29456482A>G							p.H812H	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			14	3343	-	Acute lymphoblastic leukemia(172;0.155)		812			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.2436T>C	CCDS33172.1																																																																																				0.488	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		8	112	0	0	0	0.00308	0	8	112				
CCDC74A	90557	broad.mit.edu	37	2	132290277	132290277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr2:132290277C>T	ENST00000295171.6	+	5	937	c.799C>T	c.(799-801)Cga>Tga	p.R267*	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Nonsense_Mutation_p.R201*	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	267										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCTTCCCCTGCGAAAGCCCAC	0.642																																							uc002tta.2		NA																	0				skin(1)	1						c.(799-801)CGA>TGA		coiled-coil domain containing 74A							78.0	81.0	80.0					2																	132290277		2203	4300	6503	SO:0001587	stop_gained	90557							g.chr2:132290277C>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.799C>T	2.37:g.132290277C>T	ENSP00000295171:p.Arg267*					CCDC74A_uc002ttb.2_Nonsense_Mutation_p.R201*	p.R267*	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			5	851	+			267					Q6P4I5	Nonsense_Mutation	SNP	ENST00000295171.6	37	c.799C>T	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	16.06	3.014665	0.54468	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	.	.	.	2.66	2.66	0.31614	.	0.235784	0.21781	U	0.069216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0698	0.36486	0.0:1.0:0.0:0.0	.	.	.	.	X	267;201	.	ENSP00000295171:R267X	R	+	1	2	CCDC74A	132006747	1.000000	0.71417	0.995000	0.50966	0.059000	0.15707	2.382000	0.44345	1.192000	0.43071	0.194000	0.17425	CGA		0.642	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		4	104	0	0	0	0.009096	0	4	104				
XIRP2	129446	broad.mit.edu	37	2	168100136	168100136	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr2:168100136G>C	ENST00000409195.1	+	9	2323	c.2234G>C	c.(2233-2235)aGa>aCa	p.R745T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R745T|XIRP2_ENST00000409273.1_Missense_Mutation_p.R523T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	570					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R745T(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATGTTATTAGAGATGGTTCG	0.383																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(2233-2235)AGA>ACA		xin actin-binding repeat containing 2 isoform 1							62.0	57.0	59.0					2																	168100136		1850	4084	5934	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100136G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2234G>C	2.37:g.168100136G>C	ENSP00000386840:p.Arg745Thr					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R570T|XIRP2_uc010fpq.2_Missense_Mutation_p.R523T|XIRP2_uc010fpr.2_Intron	p.R745T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2252	+			570					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2234G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402657	0.42613	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04317	3.66;3.66;3.65	5.92	4.87	0.63330	.	0.095328	0.64402	D	0.000001	T	0.16128	0.0388	M	0.72118	2.19	0.41076	D	0.985481	D;D;D	0.67145	0.958;0.996;0.996	P;P;P	0.59948	0.534;0.866;0.866	T	0.00020	-1.2357	10	0.72032	D	0.01	-22.5726	12.3634	0.55215	0.1425:0.0:0.8575:0.0	.	570;570;523	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	745;745;523	ENSP00000386840:R745T;ENSP00000295237:R745T;ENSP00000387255:R523T	ENSP00000295237:R745T	R	+	2	0	XIRP2	167808382	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.155000	0.31700	2.810000	0.96702	0.650000	0.86243	AGA		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		24	53	0	0	0	0.016522	0	24	53				
SNTA1	6640	broad.mit.edu	37	20	31996581	31996581	+	Missense_Mutation	SNP	C	C	T	rs148604302		TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr20:31996581C>T	ENST00000217381.2	-	7	1622	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	451	SU.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)	p.E451K(1)		breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TGCAGCTTCTCGAAGGGCTGT	0.612																																							uc002wzd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1351-1353)GAG>AAG		acidic alpha 1 syntrophin		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	88.0	86.0	86.0		1351	4.5	1.0	20	dbSNP_134	86	0,8600		0,0,4300	no	missense	SNTA1	NM_003098.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	451/506	31996581	1,13005	2203	4300	6503	SO:0001583	missense	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:31996581C>T	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1351G>A	20.37:g.31996581C>T	ENSP00000217381:p.Glu451Lys					SNTA1_uc010zuf.1_Missense_Mutation_p.E376K	p.E451K	NM_003098	NP_003089	Q13424	SNTA1_HUMAN			7	1623	-			451			SU.		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	ENST00000217381.2	37	c.1351G>A	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	c	31	5.061182	0.93846	2.27E-4	0.0	ENSG00000101400	ENST00000217381	D	0.86230	-2.09	4.48	4.48	0.54585	.	0.134132	0.48767	D	0.000180	D	0.93419	0.7901	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.98;0.994	D	0.94485	0.7696	10	0.72032	D	0.01	-11.3105	16.7807	0.85563	0.0:1.0:0.0:0.0	.	376;451	B4DX40;Q13424	.;SNTA1_HUMAN	K	451	ENSP00000217381:E451K	ENSP00000217381:E451K	E	-	1	0	SNTA1	31460242	1.000000	0.71417	0.963000	0.40424	0.983000	0.72400	7.534000	0.82004	2.040000	0.60383	0.457000	0.33378	GAG		0.612	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		38	62	0	0	0	0.005524	0	38	62				
JPH2	57158	broad.mit.edu	37	20	42814998	42814998	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr20:42814998G>A	ENST00000372980.3	-	1	1220	c.348C>T	c.(346-348)gaC>gaT	p.D116D	JPH2_ENST00000342272.3_Silent_p.D116D	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	116	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.D116D(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCATAGCCGTCTTGCAGGC	0.632																																							uc002xli.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(346-348)GAC>GAT		junctophilin 2 isoform 1							103.0	87.0	92.0					20																	42814998		2203	4300	6503	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42814998G>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.348C>T	20.37:g.42814998G>A						JPH2_uc002xlj.2_Silent_p.D116D	p.D116D	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	1221	-		Myeloproliferative disorder(115;0.0122)	116			MORN 5.|Gly-rich.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.348C>T	CCDS13325.1																																																																																				0.632	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			10	34	0	0	0	0.006214	0	10	34				
RFPL3	10738	broad.mit.edu	37	22	32754215	32754215	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr22:32754215C>T	ENST00000249007.4	+	1	362	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L	RFPL3_ENST00000382088.3_Silent_p.L24L|RFPL3_ENST00000397468.1_Silent_p.L24L|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	53							zinc ion binding (GO:0008270)	p.L53L(1)|p.L24L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ACCAATGTCCCTGGAGTGTGG	0.537																																							uc003amj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(157-159)CTG>TTG		ret finger protein-like 3 isoform 1							108.0	104.0	105.0					22																	32754215		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32754215C>T	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.157C>T	22.37:g.32754215C>T						RFPL3_uc010gwn.2_Silent_p.L24L	p.L53L	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN			1	362	+			53			RING-type.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.157C>T	CCDS43011.1																																																																																				0.537	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		23	26	0	0	0	0.016522	0	23	26				
KCNH8	131096	broad.mit.edu	37	3	19479843	19479843	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr3:19479843G>A	ENST00000328405.2	+	8	1631	c.1365G>A	c.(1363-1365)atG>atA	p.M455I	KCNH8_ENST00000537696.1_Missense_Mutation_p.M96I	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	455					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.M455I(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCTGCACCATGCTGATTGGTG	0.458																																					NSCLC(124;1625 1765 8018 24930 42026)	NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)	5						c.(1363-1365)ATG>ATA		potassium voltage-gated channel, subfamily H,							59.0	53.0	55.0					3																	19479843		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19479843G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1365G>A	3.37:g.19479843G>A	ENSP00000328813:p.Met455Ile					KCNH8_uc011awe.1_Missense_Mutation_p.M455I|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Missense_Mutation_p.M86I	p.M455I	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			8	1560	+			455			Helical; Name=Segment S6; (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1365G>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178658	0.94846	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	D;T	0.97870	-4.58;1.84	5.6	5.6	0.85130	Ion transport (1);	0.000000	0.37715	U	0.001966	D	0.98324	0.9444	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.975;0.999;0.999	P;D;D	0.77557	0.88;0.974;0.99	D	0.98397	1.0566	9	.	.	.	.	19.6153	0.95632	0.0:0.0:1.0:0.0	.	96;455;455	B7Z2I7;B7Z398;Q96L42	.;.;KCNH8_HUMAN	I	455;96	ENSP00000328813:M455I;ENSP00000446294:M96I	.	M	+	3	0	KCNH8	19454847	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.761000	0.98940	2.630000	0.89119	0.555000	0.69702	ATG		0.458	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		13	19	0	0	0	0.016723	0	13	19				
ULK4	54986	broad.mit.edu	37	3	41497018	41497018	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr3:41497018C>T	ENST00000301831.4	-	34	3924	c.3462G>A	c.(3460-3462)ctG>ctA	p.L1154L		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1154					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L1154L(1)|p.L306L(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCAGGTCTGTCAGAGGTCTGT	0.478																																							uc003ckv.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(3460-3462)CTG>CTA		unc-51-like kinase 4							110.0	112.0	112.0					3																	41497018		1917	4132	6049	SO:0001819	synonymous_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41497018C>T	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3462G>A	3.37:g.41497018C>T							p.L1154L	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	34	3663	-			1154			HEAT 4.		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	ENST00000301831.4	37	c.3462G>A	CCDS43071.1																																																																																				0.478	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		4	88	0	0	0	0.009096	0	4	88				
KALRN	8997	broad.mit.edu	37	3	124045016	124045016	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr3:124045016C>A	ENST00000240874.3	+	7	1433	c.1276C>A	c.(1276-1278)Cag>Aag	p.Q426K	KALRN_ENST00000460856.1_Missense_Mutation_p.Q426K|KALRN_ENST00000360013.3_Missense_Mutation_p.Q426K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	426					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q426K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAGGCTGAGCAGGTAAGGTG	0.602																																							uc003ehg.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1276-1278)CAG>AAG		kalirin, RhoGEF kinase isoform 1							62.0	45.0	51.0					3																	124045016		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124045016C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1276C>A	3.37:g.124045016C>A	ENSP00000240874:p.Gln426Lys					KALRN_uc010hrv.1_Missense_Mutation_p.Q426K|KALRN_uc003ehf.1_Missense_Mutation_p.Q426K|KALRN_uc011bjy.1_Missense_Mutation_p.Q426K	p.Q426K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			7	1403	+			426					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1276C>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.394175|3.394175	0.62066|0.62066	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.60920|.	0.75;0.65;0.15|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.69700|0.69700	0.3140|0.3140	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B;P;B|.	0.49447|.	0.008;0.924;0.033|.	B;P;B|.	0.62298|.	0.016;0.9;0.036|.	T|T	0.66308|0.66308	-0.5956|-0.5956	10|5	0.18276|.	T|.	0.48|.	.|.	18.6025|18.6025	0.91253|0.91253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	426;426;426|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	K|R	426|403	ENSP00000418611:Q426K;ENSP00000240874:Q426K;ENSP00000353109:Q426K|.	ENSP00000240874:Q426K|.	Q|S	+|+	1|3	0|2	KALRN|KALRN	125527706|125527706	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.810000|0.810000	0.45777|0.45777	7.609000|7.609000	0.82925|0.82925	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.602	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		11	29	1	0	3.86212e-05	0.008291	4.31893e-05	11	29				
SLITRK3	22865	broad.mit.edu	37	3	164906262	164906262	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr3:164906262C>T	ENST00000475390.1	-	2	2800	c.2357G>A	c.(2356-2358)gGa>gAa	p.G786E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G786E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	786					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.G786E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCACCCATTCCCGGTGGTTG	0.562										HNSCC(40;0.11)																													uc003fej.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2356-2358)GGA>GAA		slit and trk like 3 protein precursor							87.0	93.0	91.0					3																	164906262		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906262C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2357G>A	3.37:g.164906262C>T	ENSP00000420091:p.Gly786Glu	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.G786E	p.G786E	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2801	-			786			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2357G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	6.276	0.419000	0.11870	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.54279	0.58;0.58	5.44	3.59	0.41128	.	0.000000	0.36519	N	0.002544	T	0.27205	0.0667	N	0.08118	0	0.09310	N	0.999998	P	0.40931	0.733	B	0.37888	0.26	T	0.33929	-0.9849	10	0.02654	T	1	-8.1119	13.3957	0.60851	0.0:0.6987:0.3013:0.0	.	786	O94933	SLIK3_HUMAN	E	786	ENSP00000420091:G786E;ENSP00000241274:G786E	ENSP00000241274:G786E	G	-	2	0	SLITRK3	166388956	0.002000	0.14202	0.021000	0.16686	0.557000	0.35523	0.599000	0.24089	0.801000	0.34066	0.655000	0.94253	GGA		0.562	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		30	56	0	0	0	0.017118	0	30	56				
BMPR1B	658	broad.mit.edu	37	4	96075720	96075720	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr4:96075720C>A	ENST00000515059.1	+	13	1688	c.1405C>A	c.(1405-1407)Ctc>Atc	p.L469I	BMPR1B_ENST00000440890.2_Missense_Mutation_p.L499I|BMPR1B_ENST00000264568.4_Missense_Mutation_p.L469I|BMPR1B_ENST00000394931.1_Missense_Mutation_p.L469I	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.L469I(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GATGGGAAAACTCATGACAGA	0.433																																							uc003htm.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|skin(2)|stomach(1)|breast(1)	8						c.(1405-1407)CTC>ATC		bone morphogenetic protein receptor, type IB							84.0	85.0	85.0					4																	96075720		2203	4300	6503	SO:0001583	missense	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96075720C>A	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1405C>A	4.37:g.96075720C>A	ENSP00000426617:p.Leu469Ile					BMPR1B_uc010ilb.2_Missense_Mutation_p.L469I|BMPR1B_uc003htn.3_Missense_Mutation_p.L469I	p.L469I	NM_001203	NP_001194	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	13	1679	+		Hepatocellular(203;0.114)	469			Cytoplasmic (Potential).|Protein kinase.		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	c.1405C>A	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588769	0.46110	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061183	0.64402	D	0.000002	T	0.75213	0.3819	L	0.28694	0.88	0.80722	D	1	P	0.40282	0.711	P	0.58620	0.842	T	0.65713	-0.6101	10	0.12103	T	0.63	.	20.1295	0.97995	0.0:1.0:0.0:0.0	.	469	O00238	BMR1B_HUMAN	I	469;469;469;499;469;469	ENSP00000426617:L469I;ENSP00000425444:L469I;ENSP00000421671:L469I;ENSP00000401907:L499I;ENSP00000264568:L469I;ENSP00000378389:L469I	ENSP00000264568:L469I	L	+	1	0	BMPR1B	96294743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.733000	0.68571	2.758000	0.94735	0.591000	0.81541	CTC		0.433	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		11	53	1	0	0.000978159	0.010729	0.00105967	11	53				
SRD5A1	6715	broad.mit.edu	37	5	6663010	6663010	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:6663010C>T	ENST00000274192.5	+	4	878	c.644C>T	c.(643-645)tCt>tTt	p.S215F	SRD5A1_ENST00000538824.1_Missense_Mutation_p.S168F|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	215					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)	p.S215F(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	GCCAGCTGGTCTGTCCAAGGC	0.418																																							uc003jdw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(643-645)TCT>TTT		steroid-5-alpha-reductase 1	Dutasteride(DB01126)|Finasteride(DB01216)						132.0	125.0	127.0					5																	6663010		2203	4300	6503	SO:0001583	missense	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6663010C>T	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.644C>T	5.37:g.6663010C>T	ENSP00000274192:p.Ser215Phe					SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.S168F	p.S215F	NM_001047	NP_001038	P18405	S5A1_HUMAN			4	834	+			215			Helical; (Potential).		B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	ENST00000274192.5	37	c.644C>T	CCDS3870.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131276	0.56828	.	.	ENSG00000145545	ENST00000274192;ENST00000538824	T;T	0.39056	1.1;1.1	4.66	4.66	0.58398	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.055211	0.85682	D	0.000000	T	0.69450	0.3112	M	0.91768	3.24	0.80722	D	1	P;P	0.51791	0.936;0.948	P;P	0.60609	0.748;0.877	T	0.78437	-0.2204	10	0.87932	D	0	-16.3589	16.7063	0.85373	0.0:1.0:0.0:0.0	.	168;215	F5GXK9;P18405	.;S5A1_HUMAN	F	215;168	ENSP00000274192:S215F;ENSP00000440186:S168F	ENSP00000274192:S215F	S	+	2	0	SRD5A1	6716010	1.000000	0.71417	0.932000	0.37286	0.055000	0.15305	6.582000	0.74049	2.308000	0.77769	0.655000	0.94253	TCT		0.418	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		24	191	0	0	0	0.01892	0	24	191				
SRD5A1	6715	broad.mit.edu	37	5	6663031	6663031	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:6663031C>T	ENST00000274192.5	+	4	899	c.665C>T	c.(664-666)gCt>gTt	p.A222V	SRD5A1_ENST00000538824.1_Missense_Mutation_p.A175V|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	222					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)	p.A222V(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	GCGGCTTTTGCTTTCTTCACG	0.393																																							uc003jdw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(664-666)GCT>GTT		steroid-5-alpha-reductase 1	Dutasteride(DB01126)|Finasteride(DB01216)						123.0	117.0	119.0					5																	6663031		2203	4300	6503	SO:0001583	missense	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6663031C>T	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.665C>T	5.37:g.6663031C>T	ENSP00000274192:p.Ala222Val					SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.A175V	p.A222V	NM_001047	NP_001038	P18405	S5A1_HUMAN			4	855	+			222			Helical; (Potential).		B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	ENST00000274192.5	37	c.665C>T	CCDS3870.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037627	0.75617	.	.	ENSG00000145545	ENST00000274192;ENST00000538824	T;T	0.33216	1.42;1.42	4.66	4.66	0.58398	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	M	0.66439	2.03	0.80722	D	1	P;P	0.40230	0.708;0.587	P;B	0.49752	0.621;0.326	T	0.44174	-0.9345	10	0.48119	T	0.1	-18.1296	16.7063	0.85373	0.0:1.0:0.0:0.0	.	175;222	F5GXK9;P18405	.;S5A1_HUMAN	V	222;175	ENSP00000274192:A222V;ENSP00000440186:A175V	ENSP00000274192:A222V	A	+	2	0	SRD5A1	6716031	1.000000	0.71417	0.129000	0.21949	0.013000	0.08279	6.440000	0.73435	2.308000	0.77769	0.655000	0.94253	GCT		0.393	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		25	170	0	0	0	0.021523	0	25	170				
AFF4	27125	broad.mit.edu	37	5	132269967	132269967	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:132269967C>T	ENST00000265343.5	-	3	1169	c.790G>A	c.(790-792)Gag>Aag	p.E264K	AFF4_ENST00000378595.3_Missense_Mutation_p.E264K|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	264	Ser-rich.			E -> G (in Ref. 2; AAM00184). {ECO:0000305}.	spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E264K(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCATGGACTCCTGTCCGTCC	0.517																																					Ovarian(126;889 1733 2942 10745 11605)	Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|skin(1)	5						c.(790-792)GAG>AAG		ALL1 fused gene from 5q31							182.0	160.0	168.0					5																	132269967		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132269967C>T	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.790G>A	5.37:g.132269967C>T	ENSP00000265343:p.Glu264Lys					AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.E264K|AFF4_uc003kyf.3_Missense_Mutation_p.E264K	p.E264K	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1198	-		all_cancers(142;0.145)|Breast(839;0.198)	264	E -> G (in Ref. 2; AAM00184).		Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.790G>A	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884318	0.91814	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.68479	-0.33;-0.33	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.66939	2.045	0.80722	D	1	D;D;D	0.71674	0.99;0.998;0.997	D;D;D	0.78314	0.979;0.991;0.989	T	0.80641	-0.1292	10	0.46703	T	0.11	-12.7911	19.0511	0.93046	0.0:1.0:0.0:0.0	.	264;264;264	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	K	264	ENSP00000265343:E264K;ENSP00000367858:E264K	ENSP00000265343:E264K	E	-	1	0	AFF4	132297866	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.760000	0.85248	2.509000	0.84616	0.557000	0.71058	GAG		0.517	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		16	63	0	0	0	0.004007	0	16	63				
PCDHB4	56131	broad.mit.edu	37	5	140502489	140502489	+	Silent	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:140502489A>G	ENST00000194152.1	+	1	909	c.909A>G	c.(907-909)aaA>aaG	p.K303K	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K303K(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACTGTTGAAAAAAAAATTGG	0.373																																							uc003lip.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(907-909)AAA>AAG		protocadherin beta 4 precursor							89.0	106.0	100.0					5																	140502489		2202	4299	6501	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502489A>G	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.909A>G	5.37:g.140502489A>G							p.K303K	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	909	+			303			Cadherin 3.|Extracellular (Potential).		Q4V761	Silent	SNP	ENST00000194152.1	37	c.909A>G	CCDS4246.1																																																																																				0.373	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		77	145	0	0	0	0.01441	0	77	145				
GABRA1	2554	broad.mit.edu	37	5	161324267	161324267	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:161324267A>G	ENST00000428797.2	+	11	1565	c.1210A>G	c.(1210-1212)Aca>Gca	p.T404A	GABRA1_ENST00000393943.4_Missense_Mutation_p.T404A|GABRA1_ENST00000444819.1_Missense_Mutation_p.T404A|GABRA1_ENST00000420560.1_Missense_Mutation_p.T404A|GABRA1_ENST00000437025.2_Missense_Mutation_p.T404A|GABRA1_ENST00000023897.6_Missense_Mutation_p.T404A	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	404					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T404A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAAGCCCGAAACAAAACCACC	0.468																																							uc010jiw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1210-1212)ACA>GCA		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						139.0	139.0	139.0					5																	161324267		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324267A>G		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1210A>G	5.37:g.161324267A>G	ENSP00000393097:p.Thr404Ala					GABRA1_uc010jix.2_Missense_Mutation_p.T404A|GABRA1_uc010jiy.2_Missense_Mutation_p.T404A|GABRA1_uc003lyx.3_Missense_Mutation_p.T404A|GABRA1_uc010jiz.2_Missense_Mutation_p.T404A|GABRA1_uc010jja.2_Missense_Mutation_p.T404A|GABRA1_uc010jjb.2_Missense_Mutation_p.T404A	p.T404A	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1678	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	404			Cytoplasmic (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1210A>G	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	9.196	1.027147	0.19512	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.32	2.91	0.33838	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.307082	0.36628	N	0.002491	T	0.60183	0.2249	N	0.14661	0.345	0.31642	N	0.647849	B	0.25206	0.12	B	0.27500	0.08	T	0.53215	-0.8470	10	0.13108	T	0.6	.	5.9387	0.19181	0.7176:0.1384:0.1439:0.0	.	404	P14867	GBRA1_HUMAN	A	404	ENSP00000023897:T404A;ENSP00000393097:T404A;ENSP00000377517:T404A;ENSP00000415441:T404A;ENSP00000408041:T404A;ENSP00000414232:T404A	ENSP00000023897:T404A	T	+	1	0	GABRA1	161256845	1.000000	0.71417	0.702000	0.30337	0.992000	0.81027	2.127000	0.42035	0.412000	0.25729	0.460000	0.39030	ACA		0.468	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		8	119	0	0	0	0.00308	0	8	119				
HLA-DMA	3108	broad.mit.edu	37	6	32918372	32918372	+	Silent	SNP	T	T	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr6:32918372T>C	ENST00000374843.4	-	2	382	c.297A>G	c.(295-297)ttA>ttG	p.L99L	HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Silent_p.L99L|HLA-DMA_ENST00000395305.3_Intron	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	99	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)	p.L99L(1)		kidney(1)|large_intestine(2)|lung(8)	11						CTTTGTCAAATAAAATGGCAG	0.507																																							uc003ocm.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(295-297)TTA>TTG		major histocompatibility complex, class II, DM							117.0	138.0	131.0					6																	32918372		1507	2709	4216	SO:0001819	synonymous_variant	3108					integral to membrane|MHC class II protein complex		g.chr6:32918372T>C		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.297A>G	6.37:g.32918372T>C						HLA-DMA_uc011dqm.1_Silent_p.L99L	p.L99L	NM_006120	NP_006111	Q31604	Q31604_HUMAN			2	383	-			99					Q29639|Q29640	Silent	SNP	ENST00000374843.4	37	c.297A>G	CCDS4761.1																																																																																				0.507	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		58	117	0	0	0	0.01441	0	58	117				
DSE	29940	broad.mit.edu	37	6	116757414	116757414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr6:116757414G>T	ENST00000331677.3	+	7	2227	c.1783G>T	c.(1783-1785)Gag>Tag	p.E595*	DSE_ENST00000359564.2_Nonsense_Mutation_p.E595*|DSE_ENST00000452085.3_Nonsense_Mutation_p.E595*|DSE_ENST00000537543.1_Nonsense_Mutation_p.E614*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	595					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.E595*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGTTCCTTTTGAGGAGACTGT	0.493																																							uc003pws.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1783-1785)GAG>TAG		dermatan sulfate epimerase precursor							86.0	82.0	84.0					6																	116757414		2203	4300	6503	SO:0001587	stop_gained	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757414G>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1783G>T	6.37:g.116757414G>T	ENSP00000332151:p.Glu595*					DSE_uc011ebg.1_Nonsense_Mutation_p.E614*|DSE_uc003pwt.2_Nonsense_Mutation_p.E595*|DSE_uc003pwu.2_Nonsense_Mutation_p.E262*	p.E595*	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	6	1977	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	595					Q5R3K6	Nonsense_Mutation	SNP	ENST00000331677.3	37	c.1783G>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	37	6.199092	0.97371	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	.	.	.	6.01	6.01	0.97437	.	0.153021	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-23.1976	20.5211	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	X	595;614;595;595	.	ENSP00000332151:E595X	E	+	1	0	DSE	116864107	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.751000	0.62169	2.861000	0.98227	0.650000	0.86243	GAG		0.493	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		10	30	1	0	2.80697e-09	0.010729	3.35546e-09	10	30				
SHPRH	257218	broad.mit.edu	37	6	146275957	146275957	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr6:146275957T>C	ENST00000367505.2	-	2	766	c.502A>G	c.(502-504)Atg>Gtg	p.M168V	SHPRH_ENST00000367503.3_Missense_Mutation_p.M168V|SHPRH_ENST00000438092.2_Missense_Mutation_p.M168V|SHPRH_ENST00000275233.7_Missense_Mutation_p.M168V			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	168					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M168V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAAATACTCATCGGTTCTTTT	0.368																																							uc003qlf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(502-504)ATG>GTG		SNF2 histone linker PHD RING helicase isoform a							108.0	98.0	101.0					6																	146275957		1821	4087	5908	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146275957T>C	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.502A>G	6.37:g.146275957T>C	ENSP00000356475:p.Met168Val					SHPRH_uc003qld.2_Missense_Mutation_p.M168V|SHPRH_uc003qle.2_Missense_Mutation_p.M168V|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.M57V|SHPRH_uc003qlk.1_Missense_Mutation_p.M168V	p.M168V	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	901	-		Ovarian(120;0.0365)	168					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.502A>G	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.410055	0.01145	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.66	-10.7	0.00240	.	1.424890	0.04623	N	0.402371	T	0.09024	0.0223	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.14254	-1.0479	10	0.28530	T	0.3	0.8291	10.5913	0.45310	0.0758:0.6451:0.0969:0.1822	.	57;168;168;57	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	V	168;168;168;168;57	ENSP00000356475:M168V;ENSP00000356473:M168V;ENSP00000412797:M168V;ENSP00000275233:M168V	ENSP00000275233:M168V	M	-	1	0	SHPRH	146317650	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.577000	0.00909	-1.860000	0.01154	0.533000	0.62120	ATG		0.368	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		33	31	0	0	0	0.017118	0	33	31				
SYNE1	23345	broad.mit.edu	37	6	152510398	152510398	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr6:152510398G>A	ENST00000367255.5	-	128	23891	c.23290C>T	c.(23290-23292)Cta>Tta	p.L7764L	SYNE1_ENST00000265368.4_Silent_p.L7764L|SYNE1_ENST00000423061.1_Silent_p.L7693L|SYNE1_ENST00000448038.1_Silent_p.L7693L|SYNE1_ENST00000356820.4_Silent_p.L2288L|SYNE1_ENST00000341594.5_Silent_p.L7376L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7764					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L7764L(2)|p.L7693L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGTGGCATAGTTCTTCCCAC	0.433										HNSCC(10;0.0054)																													uc010kiw.2		NA																	3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(23290-23292)CTA>TTA		spectrin repeat containing, nuclear envelope 1							127.0	117.0	121.0					6																	152510398		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152510398G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23290C>T	6.37:g.152510398G>A		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.L2288L|SYNE1_uc003qos.3_Silent_p.L2288L|SYNE1_uc003qot.3_Silent_p.L7693L|SYNE1_uc003qou.3_Silent_p.L7764L|SYNE1_uc003qoq.3_5'UTR|SYNE1_uc003qor.3_Silent_p.L664L	p.L7764L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	128	23892	-		Ovarian(120;0.0955)	7764			Cytoplasmic (Potential).|Spectrin 26.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.23290C>T	CCDS5236.2																																																																																				0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	113	0	0	0	0.001984	0	6	113				
WTAP	9589	broad.mit.edu	37	6	160169299	160169299	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr6:160169299T>A	ENST00000358372.4	+	6	2107	c.350T>A	c.(349-351)aTc>aAc	p.I117N	WTAP_ENST00000337387.4_Missense_Mutation_p.I117N|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	117					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.I117N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GACCCAGCGATCAACTTGTTT	0.438																																							uc003qsl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)ATC>AAC		Wilms' tumour 1-associating protein isoform 1							59.0	60.0	59.0					6																	160169299		2202	4280	6482	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160169299T>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.350T>A	6.37:g.160169299T>A	ENSP00000351141:p.Ile117Asn					WTAP_uc010kjx.2_Missense_Mutation_p.I117N|WTAP_uc003qsk.2_Missense_Mutation_p.I117N|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Missense_Mutation_p.I117N	p.I117N	NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	6	572	+		Breast(66;0.000776)|Ovarian(120;0.0303)	117					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.350T>A	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516346	0.64634	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	T;T	0.52295	0.67;0.67	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	L	0.52011	1.625	0.80722	D	1	D;P	0.76494	0.999;0.955	D;P	0.71656	0.974;0.804	T	0.60924	-0.7166	10	0.87932	D	0	-18.4283	16.0664	0.80878	0.0:0.0:0.0:1.0	.	117;117	Q15007;Q5TCL9	FL2D_HUMAN;.	N	117	ENSP00000351141:I117N;ENSP00000336911:I117N	ENSP00000336911:I117N	I	+	2	0	WTAP	160089289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.992000	0.88273	2.201000	0.70794	0.533000	0.62120	ATC		0.438	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		16	18	0	0	0	0.004007	0	16	18				
OGDH	4967	broad.mit.edu	37	7	44733543	44733543	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:44733543C>T	ENST00000222673.5	+	11	1497	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	OGDH_ENST00000449767.1_Silent_p.Y481Y|OGDH_ENST00000447398.1_Silent_p.Y496Y|OGDH_ENST00000444676.1_Silent_p.Y500Y|OGDH_ENST00000439616.2_Silent_p.Y335Y|OGDH_ENST00000543843.1_Silent_p.Y436Y	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	485					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.Y485Y(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTGTCATGTACGTGTGCAAAG	0.612																																							uc003tln.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1453-1455)TAC>TAT		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						122.0	87.0	99.0					7																	44733543		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44733543C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1455C>T	7.37:g.44733543C>T						OGDH_uc011kbx.1_Silent_p.Y481Y|OGDH_uc011kby.1_Silent_p.Y335Y|OGDH_uc003tlp.2_Silent_p.Y496Y|OGDH_uc011kbz.1_Silent_p.Y280Y|OGDH_uc003tlo.1_Silent_p.Y318Y	p.Y485Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN			11	1564	+			485					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.1455C>T	CCDS34627.1																																																																																				0.612	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			3	40	0	0	0	0.004672	0	3	40				
PCLO	27445	broad.mit.edu	37	7	82544173	82544173	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:82544173C>T	ENST00000333891.9	-	7	13466	c.13129G>A	c.(13129-13131)Gca>Aca	p.A4377T	PCLO_ENST00000423517.2_Missense_Mutation_p.A4377T|PCLO_ENST00000437081.1_Missense_Mutation_p.A1097T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A4377T(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTCCAGCTGCAGCCCTGGCC	0.502																																							uc003uhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(13129-13131)GCA>ACA		piccolo isoform 1							75.0	79.0	78.0					7																	82544173		1986	4163	6149	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544173C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13129G>A	7.37:g.82544173C>T	ENSP00000334319:p.Ala4377Thr					PCLO_uc003uhv.2_Missense_Mutation_p.A4377T|PCLO_uc010lec.2_Missense_Mutation_p.A1342T	p.A4377T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	13418	-			4308						Missense_Mutation	SNP	ENST00000333891.9	37	c.13129G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142876	0.57044	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.19938	2.11;2.11	5.75	5.75	0.90469	.	.	.	.	.	T	0.45418	0.1341	M	0.61703	1.905	0.54753	D	0.999984	D;D;D	0.65815	0.991;0.995;0.995	P;P;D	0.64144	0.656;0.896;0.922	T	0.30090	-0.9990	9	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	4308;4377;4377	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	T	4377;4377;1097	ENSP00000334319:A4377T;ENSP00000388393:A4377T	ENSP00000334319:A4377T	A	-	1	0	PCLO	82382109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.871000	0.63042	2.725000	0.93324	0.655000	0.94253	GCA		0.502	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		22	53	0	0	0	0.01892	0	22	53				
BAIAP2L1	55971	broad.mit.edu	37	7	97949602	97949602	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:97949602G>C	ENST00000005260.8	-	4	438	c.223C>G	c.(223-225)Ctc>Gtc	p.L75V	BAIAP2L1_ENST00000462558.1_5'UTR|RP11-307C18.1_ENST00000610062.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	75	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.L75V(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			ATCTCTATGAGGACATGTCCT	0.403																																							uc003upj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(223-225)CTC>GTC		BAI1-associated protein 2-like 1							93.0	90.0	91.0					7																	97949602		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97949602G>C	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.223C>G	7.37:g.97949602G>C	ENSP00000005260:p.Leu75Val						p.L75V	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	486	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		75			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.223C>G	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622305	0.66787	.	.	ENSG00000006453	ENST00000005260	T	0.54071	0.59	5.71	5.71	0.89125	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80578	-0.1320	10	0.66056	D	0.02	-6.5785	18.8514	0.92232	0.0:0.0:1.0:0.0	.	75	Q9UHR4	BI2L1_HUMAN	V	75	ENSP00000005260:L75V	ENSP00000005260:L75V	L	-	1	0	AC093799.1	97787538	1.000000	0.71417	0.963000	0.40424	0.661000	0.39034	4.093000	0.57714	2.699000	0.92147	0.655000	0.94253	CTC		0.403	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		15	51	0	0	0	0.004007	0	15	51				
SSU72P8	136157	broad.mit.edu	37	7	124116875	124116875	+	IGR	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:124116875G>T								RP5-921G16.1 (81703 upstream) : RNU6-102P (170897 downstream)																							TGCCATCCTGGGAGCTTTCCT	0.532																																							uc011kod.1		NA																	0					NA						c.(451-453)GGA>TGA		RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2;          Short=CTD phosphatase SSU72-like protein 2;          EC=3.1.3.16;							59.0	57.0	57.0					7																	124116875		1927	4152	6079	SO:0001628	intergenic_variant	0							g.chr7:124116875G>T																													7.37:g.124116875G>T							p.G151*	NM_001085395	NP_001078864					1	451	+									Nonsense_Mutation	SNP		37	c.451G>T																																																																																				0	0.532									12	52	1	0	2.61681e-11	0.020292	3.23987e-11	12	52				
DLGAP2	9228	broad.mit.edu	37	8	1497387	1497387	+	Silent	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:1497387C>A	ENST00000421627.2	+	2	662	c.528C>A	c.(526-528)ggC>ggA	p.G176G		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	255					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.G198G(1)|p.G220G(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGCCAACGGCACCAAGGCGG	0.677																																							uc003wpl.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(526-528)GGC>GGA		discs large-associated protein 2							14.0	21.0	19.0					8																	1497387		2169	4279	6448	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497387C>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.528C>A	8.37:g.1497387C>A						DLGAP2_uc003wpm.2_Silent_p.G176G	p.G176G	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	625	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	255					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.528C>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	1.076	-0.668502	0.03403	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.57	-7.15	0.01521	.	.	.	.	.	T	0.50000	0.1590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55805	-0.8083	4	.	.	.	-19.9492	9.4568	0.38760	0.0815:0.5436:0.2268:0.1481	.	.	.	.	E	193	.	.	A	+	2	0	DLGAP2	1484794	0.110000	0.22057	0.113000	0.21522	0.189000	0.23516	-0.619000	0.05572	-0.997000	0.03450	-0.147000	0.13772	GCA		0.677	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		4	4	1	0	0.00909568	0.009096	0.00945951	4	4				
SNAI2	6591	broad.mit.edu	37	8	49832627	49832627	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:49832627G>A	ENST00000396822.1	-	3	810	c.453C>T	c.(451-453)tgC>tgT	p.C151C	SNAI2_ENST00000020945.1_Silent_p.C151C			O43623	SNAI2_HUMAN	snail family zinc finger 2	151					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.C151W(1)|p.C151C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ACTGGGCATCGCAGTGCAGCT	0.453																																							uc003xqp.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(2)	2						c.(451-453)TGC>TGT		snail 2							86.0	86.0	86.0					8																	49832627		2203	4300	6503	SO:0001819	synonymous_variant	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832627G>A	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.453C>T	8.37:g.49832627G>A							p.C151C	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	617	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	151					B2R6P6|Q53FC1	Silent	SNP	ENST00000396822.1	37	c.453C>T	CCDS6146.1																																																																																				0.453	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		49	70	0	0	0	0.01441	0	49	70				
NPBWR1	2831	broad.mit.edu	37	8	53852850	53852850	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:53852850C>T	ENST00000331251.3	+	1	1860	c.383C>T	c.(382-384)aCc>aTc	p.T128I		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	128					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.T128I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TACTTCCTCACCGTCATGAGC	0.677																																							uc011ldu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(382-384)ACC>ATC		G protein-coupled receptor 7							35.0	35.0	35.0					8																	53852850		2199	4288	6487	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53852850C>T	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.383C>T	8.37:g.53852850C>T	ENSP00000330284:p.Thr128Ile						p.T128I	NM_005285	NP_005276	P48145	NPBW1_HUMAN			1	383	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	128			Helical; Name=3; (Potential).		Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.383C>T	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337886	0.95758	.	.	ENSG00000183729	ENST00000331251	T	0.73469	-0.75	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.105803	0.39909	N	0.001227	D	0.85182	0.5638	M	0.79926	2.475	0.52501	D	0.999954	P	0.52577	0.954	P	0.57846	0.828	D	0.86822	0.2005	10	0.62326	D	0.03	.	18.6101	0.91281	0.0:1.0:0.0:0.0	.	128	P48145	NPBW1_HUMAN	I	128	ENSP00000330284:T128I	ENSP00000330284:T128I	T	+	2	0	NPBWR1	54015403	0.997000	0.39634	0.923000	0.36655	0.992000	0.81027	5.719000	0.68462	2.623000	0.88846	0.655000	0.94253	ACC		0.677	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		10	19	0	0	0	0.008291	0	10	19				
PREX2	80243	broad.mit.edu	37	8	68931805	68931805	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:68931805G>C	ENST00000288368.4	+	3	512	c.235G>C	c.(235-237)Gac>Cac	p.D79H	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	79	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.D79H(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAACATTGAAGACATCCTTGC	0.358																																							uc003xxv.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(235-237)GAC>CAC		DEP domain containing 2 isoform a							75.0	76.0	76.0					8																	68931805		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68931805G>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.235G>C	8.37:g.68931805G>C	ENSP00000288368:p.Asp79His					PREX2_uc003xxu.1_Missense_Mutation_p.D79H|PREX2_uc011lez.1_Intron	p.D79H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			3	262	+			79			DH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.235G>C	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757992	0.89843	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.70399	-0.48	5.81	5.81	0.92471	Dbl homology (DH) domain (5);	0.297057	0.36444	N	0.002599	D	0.83566	0.5282	M	0.74647	2.275	0.58432	D	0.999998	P;D	0.56287	0.752;0.975	P;D	0.63381	0.828;0.914	D	0.84701	0.0728	10	0.87932	D	0	.	18.8357	0.92162	0.0:0.0:1.0:0.0	.	79;79	Q70Z35;Q70Z35-3	PREX2_HUMAN;.	H	79	ENSP00000288368:D79H	ENSP00000288368:D79H	D	+	1	0	PREX2	69094359	1.000000	0.71417	0.973000	0.42090	0.975000	0.68041	9.172000	0.94808	2.737000	0.93849	0.650000	0.86243	GAC		0.358	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		6	32	0	0	0	0.001168	0	6	32				
KCNB2	9312	broad.mit.edu	37	8	73849192	73849192	+	Silent	SNP	T	T	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:73849192T>C	ENST00000523207.1	+	3	2190	c.1602T>C	c.(1600-1602)caT>caC	p.H534H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	534					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.H534H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GCCCACAGCATCTGAGTGCCC	0.488																																							uc003xzb.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1600-1602)CAT>CAC		potassium voltage-gated channel, Shab-related							116.0	111.0	113.0					8																	73849192		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849192T>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1602T>C	8.37:g.73849192T>C							p.H534H	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2190	+	Breast(64;0.137)		534			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1602T>C	CCDS6209.1																																																																																				0.488	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		5	100	0	0	0	0.014758	0	5	100				
DCAF13	25879	broad.mit.edu	37	8	104442853	104442853	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:104442853G>A	ENST00000297579.5	+	6	1371	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	213					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.G365E(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTTCTCTTGGGAAGTTGTGCA	0.378																																							uc003yln.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1093-1095)GGA>GAA		WD repeats and SOF1 domain containing							241.0	232.0	235.0					8																	104442853		2203	4300	6503	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104442853G>A	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1094G>A	8.37:g.104442853G>A	ENSP00000297579:p.Gly365Glu					DCAF13_uc003ylm.1_Missense_Mutation_p.G98E|DCAF13_uc003ylo.2_Missense_Mutation_p.G76E	p.G365E	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN			6	1371	+			213			WD 4.		Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1094G>A	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941412	0.73557	.	.	ENSG00000164934	ENST00000297579	T	0.73681	-0.77	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.179163	0.47852	D	0.000214	T	0.71484	0.3345	L	0.55213	1.73	0.80722	D	1	B	0.30326	0.276	B	0.32090	0.14	T	0.73613	-0.3927	10	0.87932	D	0	-18.939	14.458	0.67431	0.0:0.147:0.853:0.0	.	213	Q9NV06	DCA13_HUMAN	E	365	ENSP00000297579:G365E	ENSP00000297579:G365E	G	+	2	0	DCAF13	104512029	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.272000	0.65559	2.466000	0.83321	0.557000	0.71058	GGA		0.378	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		99	260	0	0	0	0.01441	0	99	260				
CYP11B2	1585	broad.mit.edu	37	8	143999137	143999137	+	Silent	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:143999137G>T	ENST00000323110.2	-	1	122	c.120C>A	c.(118-120)gcC>gcA	p.A40A		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	40					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.A40A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCTGGGGCATGGCTTCAAACG	0.652									Familial Hyperaldosteronism type I																														uc003yxk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(118-120)GCC>GCA		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						83.0	76.0	79.0					8																	143999137		2203	4300	6503	SO:0001819	synonymous_variant	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143999137G>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.120C>A	8.37:g.143999137G>T							p.A40A	NM_000498	NP_000489	P19099	C11B2_HUMAN			1	123	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		40					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.120C>A	CCDS6393.1																																																																																				0.652	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			17	73	1	0	1.67942e-08	0.006122	1.98476e-08	17	73				
CPSF1	29894	broad.mit.edu	37	8	145626466	145626466	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:145626466C>T	ENST00000349769.3	-	6	485	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	131					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.G131R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCACAAACCCGTCCTGGGGG	0.677																																					NSCLC(133;1088 1848 27708 34777 35269)	NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(391-393)GGG>AGG		cleavage and polyadenylation specific factor 1,							12.0	15.0	14.0					8																	145626466		2194	4286	6480	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145626466C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.391G>A	8.37:g.145626466C>T	ENSP00000339353:p.Gly131Arg					CPSF1_uc003zck.1_Missense_Mutation_p.G53R|CPSF1_uc011lle.1_Missense_Mutation_p.G131R|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Missense_Mutation_p.G131R	p.G131R	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		6	466	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		131					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.391G>A	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502490	0.64298	.	.	ENSG00000071894	ENST00000349769;ENST00000531042	T	0.45668	0.89	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.91635	0.992;0.999;0.937	T	0.69997	-0.4993	10	0.72032	D	0.01	-11.4246	14.6593	0.68858	0.0:1.0:0.0:0.0	.	131;53;131	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	R	131	ENSP00000339353:G131R	ENSP00000339353:G131R	G	-	1	0	CPSF1	145597274	1.000000	0.71417	0.970000	0.41538	0.292000	0.27327	7.246000	0.78247	2.320000	0.78422	0.561000	0.74099	GGG		0.677	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		4	24	0	0	0	0.009096	0	4	24				
RLN1	6013	broad.mit.edu	37	9	5335488	5335488	+	Silent	SNP	T	T	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:5335488T>A	ENST00000223862.1	-	2	447	c.321A>T	c.(319-321)ccA>ccT	p.P107P	RLN1_ENST00000223858.4_3'UTR|RLN1_ENST00000487557.2_5'UTR	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	107					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.P107P(1)		large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		CTGGTAATGATGGTTGCCTCT	0.398																																							uc003zjb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(319-321)CCA>CCT		relaxin 1 preproprotein							105.0	101.0	103.0					9																	5335488		2203	4300	6503	SO:0001819	synonymous_variant	6013				female pregnancy|signal transduction	extracellular region	hormone activity	g.chr9:5335488T>A		CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"""Endogenous ligands"""	10026	protein-coding gene	gene with protein product	"""prorelaxin H1"""	179730	"""relaxin 1 (H1)"""				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.321A>T	9.37:g.5335488T>A							p.P107P	NM_006911	NP_008842	P04808	REL1_HUMAN		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)	2	448	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	107					Q99936|Q9UQJ1	Silent	SNP	ENST00000223862.1	37	c.321A>T	CCDS6462.1																																																																																				0.398	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051617.1			29	395	0	0	0	0.00632	0	29	395				
KIAA2026	158358	broad.mit.edu	37	9	6007361	6007361	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:6007361C>G	ENST00000399933.3	-	1	426	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E143Q|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	143								p.E143Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACTTCTCTTCCATCTGCAGC	0.692																																							uc003zjq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(427-429)GAA>CAA		hypothetical protein LOC158358							28.0	32.0	31.0					9																	6007361		1979	4140	6119	SO:0001583	missense	158358							g.chr9:6007361C>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.427G>C	9.37:g.6007361C>G	ENSP00000382815:p.Glu143Gln						p.E143Q	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	643	-		Acute lymphoblastic leukemia(23;0.158)	143					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.427G>C		.	.	.	.	.	.	.	.	.	.	C	13.43	2.235348	0.39498	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	T;T;T	0.42513	0.97;0.97;0.97	4.43	3.52	0.40303	Bromodomain (3);	.	.	.	.	T	0.43634	0.1256	N	0.11560	0.145	0.29072	N	0.883206	D	0.76494	0.999	D	0.72075	0.976	T	0.42292	-0.9460	9	0.46703	T	0.11	.	12.3783	0.55293	0.1686:0.8314:0.0:0.0	.	143	Q5HYC2	K2026_HUMAN	Q	143	ENSP00000382815:E143Q;ENSP00000370870:E143Q;ENSP00000444993:E143Q	ENSP00000370870:E143Q	E	-	1	0	KIAA2026	5997361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.070000	0.57548	0.976000	0.38417	0.561000	0.74099	GAA		0.692	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		37	38	0	0	0	0.019004	0	37	38				
KIAA2026	158358	broad.mit.edu	37	9	6007387	6007387	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:6007387C>T	ENST00000399933.3	-	1	400	c.401G>A	c.(400-402)gGa>gAa	p.G134E	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G134E|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	134								p.G134E(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CATGCCCTGTCCGGGCTGCTG	0.692																																							uc003zjq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(400-402)GGA>GAA		hypothetical protein LOC158358							19.0	21.0	21.0					9																	6007387		1899	4095	5994	SO:0001583	missense	158358							g.chr9:6007387C>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.401G>A	9.37:g.6007387C>T	ENSP00000382815:p.Gly134Glu						p.G134E	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	617	-		Acute lymphoblastic leukemia(23;0.158)	134					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.401G>A		.	.	.	.	.	.	.	.	.	.	C	5.101	0.204303	0.09704	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.43	2.52	0.30459	Bromodomain (2);	.	.	.	.	T	0.23846	0.0577	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.19976	-1.0289	8	0.30078	T	0.28	.	3.6224	0.08100	0.1454:0.536:0.2223:0.0963	.	134	Q5HYC2	K2026_HUMAN	E	134	.	ENSP00000370870:G134E	G	-	2	0	KIAA2026	5997387	0.007000	0.16637	0.063000	0.19743	0.253000	0.25986	0.983000	0.29552	0.406000	0.25560	0.561000	0.74099	GGA		0.692	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		21	25	0	0	0	0.012319	0	21	25				
KIAA2026	158358	broad.mit.edu	37	9	6007613	6007613	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:6007613C>G	ENST00000399933.3	-	1	174	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E59Q|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	59								p.E59Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GCCTCCATCTCTTCCTCCTGA	0.662																																							uc003zjq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(175-177)GAG>CAG		hypothetical protein LOC158358							34.0	41.0	39.0					9																	6007613		2075	4203	6278	SO:0001583	missense	158358							g.chr9:6007613C>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.175G>C	9.37:g.6007613C>G	ENSP00000382815:p.Glu59Gln						p.E59Q	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	391	-		Acute lymphoblastic leukemia(23;0.158)	59					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.175G>C		.	.	.	.	.	.	.	.	.	.	C	6.037	0.375123	0.11409	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	3.71	2.8	0.32819	.	.	.	.	.	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	P	0.40476	0.718	B	0.34931	0.192	T	0.07635	-1.0762	8	0.33141	T	0.24	.	11.1019	0.48179	0.1856:0.8144:0.0:0.0	.	59	Q5HYC2	K2026_HUMAN	Q	59	.	ENSP00000370870:E59Q	E	-	1	0	KIAA2026	5997613	0.002000	0.14202	0.008000	0.14137	0.064000	0.16182	1.417000	0.34770	0.893000	0.36288	0.491000	0.48974	GAG		0.662	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		39	65	0	0	0	0.00874	0	39	65				
UBAP2	55833	broad.mit.edu	37	9	33998823	33998823	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:33998823C>T	ENST00000379238.1	-	3	256	c.139G>A	c.(139-141)Gat>Aat	p.D47N	UBAP2_ENST00000418786.2_Missense_Mutation_p.D47N|UBAP2_ENST00000539807.1_Missense_Mutation_p.D9N|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000360802.1_Missense_Mutation_p.D47N|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.D47N					ubiquitin associated protein 2									p.D47N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCATTCTTATCAAAGATCACT	0.328																																							uc003ztq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(139-141)GAT>AAT		ubiquitin associated protein 2							106.0	102.0	103.0					9																	33998823		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33998823C>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.139G>A	9.37:g.33998823C>T	ENSP00000368540:p.Asp47Asn					UBAP2_uc011loc.1_Missense_Mutation_p.D9N|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Missense_Mutation_p.D9N|UBAP2_uc011lof.1_Missense_Mutation_p.D9N|UBAP2_uc011log.1_Missense_Mutation_p.D46N|UBAP2_uc003ztr.2_Missense_Mutation_p.D9N	p.D47N	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	3	252	-			47						Missense_Mutation	SNP	ENST00000379238.1	37	c.139G>A	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	36	5.848510	0.97023	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000539807;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.5;1.37;1.37	6.17	6.17	0.99709	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	M	0.64170	1.965	0.80722	D	1	P;D;D;D;D;D	0.89917	0.604;1.0;0.985;0.992;1.0;1.0	P;D;P;P;D;D	0.91635	0.552;0.999;0.874;0.874;0.997;0.999	T	0.56092	-0.8036	10	0.52906	T	0.07	-17.7086	20.8794	0.99867	0.0:1.0:0.0:0.0	.	47;9;9;9;9;47	E7EWG4;F5H4D5;F5H2U4;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;UBAP2_HUMAN	N	47;47;47;9;9;47;47;47	ENSP00000368540:D47N;ENSP00000416932:D47N;ENSP00000354039:D47N;ENSP00000439329:D9N;ENSP00000404436:D47N;ENSP00000414800:D47N	ENSP00000259602:D47N	D	-	1	0	UBAP2	33988823	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.373000	0.79623	2.941000	0.99782	0.655000	0.94253	GAT		0.328	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		18	135	0	0	0	0.014323	0	18	135				
OR2S2	56656	broad.mit.edu	37	9	35957732	35957732	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:35957732C>G	ENST00000341959.2	-	1	419	c.364G>C	c.(364-366)Gat>Cat	p.D122H		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	122					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D112H(1)|p.D122H(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			ACATAGCGATCAAATGCCATC	0.562																																					Pancreas(172;293 2036 17878 24427 30946)	Pancreas(172;293 2036 17878 24427 30946)	uc011lpi.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(364-366)GAT>CAT		olfactory receptor, family 2, subfamily S,							94.0	79.0	84.0					9																	35957732		2203	4300	6503	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957732C>G	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.364G>C	9.37:g.35957732C>G	ENSP00000344040:p.Asp122His						p.D122H	NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	420	-			122			Cytoplasmic (Potential).		Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.364G>C	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232602	0.39498	.	.	ENSG00000122718	ENST00000341959	T	0.18338	2.22	4.32	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.50069	0.1594	M	0.94101	3.495	0.31824	N	0.625537	D	0.89917	1.0	D	0.87578	0.998	T	0.67612	-0.5626	10	0.72032	D	0.01	.	12.5175	0.56040	0.0:0.8302:0.1698:0.0	.	122	Q9NQN1	OR2S1_HUMAN	H	122	ENSP00000344040:D122H	ENSP00000344040:D122H	D	-	1	0	OR2S2	35947732	1.000000	0.71417	0.512000	0.27736	0.085000	0.17905	3.892000	0.56235	1.385000	0.46445	0.655000	0.94253	GAT		0.562	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		24	43	0	0	0	0.021523	0	24	43				
PJA1	64219	broad.mit.edu	37	X	68381893	68381893	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chrX:68381893G>A	ENST00000361478.1	-	2	1566	c.1189C>T	c.(1189-1191)Ccg>Tcg	p.P397S	PJA1_ENST00000374571.4_Missense_Mutation_p.P342S|PJA1_ENST00000374584.3_Missense_Mutation_p.P209S|PJA1_ENST00000374583.1_Missense_Mutation_p.P397S|PJA1_ENST00000477231.1_5'Flank	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	397					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P397S(1)|p.P209S(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCTTTCCCCGGCAGAGTCTCC	0.622													g|||	1	0.000264901	0.0008	0.0	3775	,	,		12477	0.0		0.0	False		,,,				2504	0.0						uc004dxh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1189-1191)CCG>TCG		praja 1 isoform a							29.0	30.0	30.0					X																	68381893		2203	4298	6501	SO:0001583	missense	64219						zinc ion binding	g.chrX:68381893G>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1189C>T	X.37:g.68381893G>A	ENSP00000355014:p.Pro397Ser					PJA1_uc011mpi.1_Missense_Mutation_p.P115S|PJA1_uc004dxg.2_Missense_Mutation_p.P209S|PJA1_uc004dxi.2_Missense_Mutation_p.P342S	p.P397S	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	1475	-			397					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1189C>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	g	11.16	1.556080	0.27827	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.05139	3.49;3.49;3.49;3.49	3.59	1.81	0.25067	.	0.116572	0.37178	U	0.002212	T	0.07548	0.0190	M	0.62723	1.935	0.28130	N	0.930259	B;B	0.16396	0.003;0.017	B;B	0.17979	0.003;0.02	T	0.15578	-1.0432	10	0.45353	T	0.12	-1.3169	7.2422	0.26102	0.2372:0.0:0.7628:0.0	.	397;209	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	S	312;209;397;397;342	ENSP00000363712:P209S;ENSP00000363711:P397S;ENSP00000355014:P397S;ENSP00000363699:P342S	ENSP00000355014:P397S	P	-	1	0	PJA1	68298618	0.999000	0.42202	0.001000	0.08648	0.036000	0.12997	3.416000	0.52707	0.379000	0.24794	-0.302000	0.09304	CCG		0.622	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		3	45	0	0	0	0.009096	0	3	45				
TAF1	6872	broad.mit.edu	37	X	70598123	70598123	+	Silent	SNP	A	A	G	rs55836865		TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chrX:70598123A>G	ENST00000373790.4	+	7	1020	c.969A>G	c.(967-969)caA>caG	p.Q323Q	TAF1_ENST00000423759.1_Silent_p.Q344Q|TAF1_ENST00000276072.3_Silent_p.Q344Q|TAF1_ENST00000449580.1_Silent_p.Q323Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	323	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q344Q(1)|p.Q323Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AATTTTCCCAATCAACTGGAG	0.473													A|||	3	0.000794702	0.0	0.0	3775	,	,		14571	0.003		0.0	False		,,,				2504	0.0						uc004dzu.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(967-969)CAA>CAG		TBP-associated factor 1 isoform 2							110.0	89.0	97.0					X																	70598123		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70598123A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.969A>G	X.37:g.70598123A>G						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.Q344Q	p.Q323Q	NM_138923	NP_620278	P21675	TAF1_HUMAN			7	1020	+	Renal(35;0.156)	all_lung(315;0.000321)	323			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.969A>G	CCDS35325.1																																																																																				0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		3	56	0	0	0	0.009096	0	3	56				
NAP1L2	4674	broad.mit.edu	37	X	72433189	72433189	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chrX:72433189G>A	ENST00000373517.3	-	1	1495	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	NAP1L2_ENST00000536638.1_Silent_p.T238T	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	380					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.T380T(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TTCCATTTGAGGTGATTCCAT	0.363																																							uc004ebi.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1138-1140)ACC>ACT		nucleosome assembly protein 1-like 2							54.0	50.0	51.0					X																	72433189		2203	4300	6503	SO:0001819	synonymous_variant	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433189G>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.1140C>T	X.37:g.72433189G>A						NAP1L2_uc011mqj.1_Silent_p.T238T	p.T380T	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	1496	-	Renal(35;0.156)		380					B2RE61|B4E161|Q8TAN6	Silent	SNP	ENST00000373517.3	37	c.1140C>T	CCDS14423.1																																																																																				0.363	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		46	15	0	0	0	0.013114	0	46	15				
IRS4	8471	broad.mit.edu	37	X	107976069	107976069	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chrX:107976069G>C	ENST00000372129.2	-	1	3582	c.3506C>G	c.(3505-3507)gCt>gGt	p.A1169G	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1169	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.A1169G(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGCATCAGCAGCATTAGCAAC	0.642																																							uc004eoc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(3505-3507)GCT>GGT		insulin receptor substrate 4							55.0	60.0	58.0					X																	107976069		2196	4289	6485	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976069G>C	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3506C>G	X.37:g.107976069G>C	ENSP00000361202:p.Ala1169Gly						p.A1169G	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	3539	-			1169			Ala-rich.			Missense_Mutation	SNP	ENST00000372129.2	37	c.3506C>G	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877195	0.72294	.	.	ENSG00000133124	ENST00000372129	T	0.44881	0.91	4.41	2.57	0.30868	.	0.603297	0.16004	N	0.234174	T	0.24661	0.0598	N	0.24115	0.695	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.14952	-1.0454	10	0.31617	T	0.26	-3.6743	4.9964	0.14242	0.1188:0.211:0.6702:0.0	.	1169	O14654	IRS4_HUMAN	G	1169	ENSP00000361202:A1169G	ENSP00000361202:A1169G	A	-	2	0	IRS4	107862725	0.032000	0.19561	0.068000	0.19968	0.717000	0.41224	0.397000	0.20883	0.558000	0.29135	0.600000	0.82982	GCT		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		80	14	0	0	0	0.01441	0	80	14				
MTMR1	8776	broad.mit.edu	37	X	149901147	149901147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chrX:149901147C>A	ENST00000370390.3	+	9	1158	c.1001C>A	c.(1000-1002)tCa>tAa	p.S334*	MTMR1_ENST00000451863.2_Nonsense_Mutation_p.S334*|MTMR1_ENST00000445323.2_Nonsense_Mutation_p.S342*|MTMR1_ENST00000544228.1_Nonsense_Mutation_p.S334*|MTMR1_ENST00000541925.1_Nonsense_Mutation_p.S240*|MTMR1_ENST00000538506.1_Nonsense_Mutation_p.S221*|MTMR1_ENST00000542156.1_Nonsense_Mutation_p.S334*	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	334	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.S334*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACGCACAGTCACACAAGCTT	0.423																																							uc004fei.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1000-1002)TCA>TAA		myotubularin-related protein 1							129.0	102.0	111.0					X																	149901147		2203	4300	6503	SO:0001587	stop_gained	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149901147C>A	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1001C>A	X.37:g.149901147C>A	ENSP00000359417:p.Ser334*					MTMR1_uc011mya.1_Nonsense_Mutation_p.S240*|MTMR1_uc004feg.1_Nonsense_Mutation_p.S334*|MTMR1_uc004feh.1_Nonsense_Mutation_p.S342*|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	p.S334*	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			9	1136	+	Acute lymphoblastic leukemia(192;6.56e-05)		334			Myotubularin phosphatase.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Nonsense_Mutation	SNP	ENST00000370390.3	37	c.1001C>A	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	C	38	6.902986	0.97924	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	.	.	.	5.93	5.93	0.95920	.	0.054740	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2891	0.94092	0.0:1.0:0.0:0.0	.	.	.	.	X	240;334;334;342;334;334;221	.	ENSP00000359417:S334X	S	+	2	0	MTMR1	149651805	1.000000	0.71417	0.995000	0.50966	0.800000	0.45204	7.818000	0.86416	2.508000	0.84585	0.523000	0.50628	TCA		0.423	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		39	13	1	0	1.03484e-13	0.005524	1.29666e-13	39	13				
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	TGC	TGC	-	-	TGC	TGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																							uc009zpm.1		NA																	0				ovary(2)	2						c.(1234-1239)CAGCAA>CAA		R3H domain containing 2																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q|R3HDM2_uc009zpn.1_In_Frame_Del_p.35_36QQ>Q	p.412_413QQ>Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			12	1271_1273	-			412_413			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1236_1238delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		7	125	NA	NA	NA	NA	NA	7	125	---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25677981	25677983	+	In_Frame_Del	DEL	CGT	CGT	-			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	CGT	CGT	-	-	CGT	CGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr4:25677981_25677983delCGT	ENST00000382051.3	+	13	1733_1735	c.1683_1685delCGT	c.(1681-1686)cccgtc>ccc	p.V563del	SLC34A2_ENST00000503434.1_In_Frame_Del_p.V562del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.V562del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	563					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.P561P(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCGGGGTTCCCGTCGTCTTCATC	0.606			T	ROS1	NSCLC																																		uc003grr.2		NA		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					1	Substitution - coding silent(1)		large_intestine(1)	skin(3)|ovary(1)|kidney(1)	5						c.(1681-1686)CCCGTC>CCC		solute carrier family 34 (sodium phosphate),																																				SO:0001651	inframe_deletion	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677981_25677983delCGT	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1683_1685delCGT	4.37:g.25677984_25677986delCGT	ENSP00000371483:p.Val563del					SLC34A2_uc003grs.2_In_Frame_Del_p.V562del|SLC34A2_uc010iev.2_In_Frame_Del_p.V562del	p.V563del	NM_006424	NP_006415	O95436	NPT2B_HUMAN			13	1764_1766	+		Breast(46;0.0503)	563			Helical; Name=M8; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	ENST00000382051.3	37	c.1683_1685delCGT	CCDS3435.1																																																																																				0.606	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		38	70	NA	NA	NA	NA	NA	38	70	---	---	---	---
CKMT2	1160	broad.mit.edu	37	5	80550291	80550292	+	Frame_Shift_Ins	INS	-	-	GG	rs146777847	byFrequency	TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:80550291_80550292insGG	ENST00000424301.2	+	5	666_667	c.428_429insGG	c.(427-432)acggatfs	p.D144fs	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Frame_Shift_Ins_p.D144fs|CKMT2_ENST00000437669.1_Frame_Shift_Ins_p.D144fs|CKMT2-AS1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	144					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AAGCACACAACGGATCTGGATG	0.569																																							uc003khc.3		NA																	0					0						c.(427-429)ACGfs		sarcomeric mitochondrial creatine kinase	Creatine(DB00148)																																			SO:0001589	frameshift_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80550291_80550292insGG		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.429_430dupGG	5.37:g.80550292_80550293dupGG	ENSP00000404203:p.Asp144fs					RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Frame_Shift_Ins_p.T143fs|CKMT2_uc003khd.3_Frame_Shift_Ins_p.T143fs|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	p.T143fs	NM_001825	NP_001816	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	5	670_671	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	143					Q6ICS8|Q8N1E1	Frame_Shift_Ins	INS	ENST00000424301.2	37	c.428_429insGG	CCDS4053.1																																																																																				0.569	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		10	78	NA	NA	NA	NA	NA	10	78	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438|rs121913439|rs397517099|rs397517098|rs397517097|rs397517096|rs397517095|rs397517094|rs121913435|rs121913436|rs121913437|rs397509368|rs121913229|rs121913441|rs121913440|rs121913442|rs121913423|rs121913422|rs121913421|rs121913427|rs121913426|rs121913425|rs121913424		TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	-	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaggaattaagagaagca>aaa	p.ELREA746del	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ELREA693del|EGFR_ENST00000455089.1_In_Frame_Del_p.ELREA701del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		ELREAT -> A (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|ELREATS -> D (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1576	Deletion - In frame(1161)|Complex - deletion inframe(388)|Substitution - Missense(16)|Insertion - In frame(10)|Complex - compound substitution(1)	p.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.A750P(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.A750_E758>P(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.A750_K754del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.A750_E758del(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.E746_A750>EP(1)	lung(1549)|upper_aerodigestive_tract(9)|salivary_gland(6)|thyroid(3)|large_intestine(2)|breast(2)|ovary(2)|central_nervous_system(1)|prostate(1)|kidney(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2233-2250)AAGGAATTAAGAGAAGCA>AAA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55242465_55242479delGGAATTAAGAGAAGC		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2235_2249delGGAATTAAGAGAAGC	7.37:g.55242465_55242479delGGAATTAAGAGAAGC	ENSP00000275493:p.Glu746_Ala750del	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del|EGFR_uc011kco.1_In_Frame_Del_p.ELREA693del	p.ELREA746del	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2481_2495	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		746_750		Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Del	DEL	ENST00000275493.2	37	c.2235_2249delGGAATTAAGAGAAGC	CCDS5514.1																																																																																				0.479	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		11	50	NA	NA	NA	NA	NA	11	50	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:133150232_133150233insT	ENST00000388996.4	-	12	2019_2020	c.1599_1600insA	c.(1597-1602)aaattcfs	p.F534fs	KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.F414fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.F534fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	534					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTCTCCTTGAATTTTTTTTTAT	0.455																																							uc003ytj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1597-1602)AAATTCfs		potassium voltage-gated channel KQT-like protein																																				SO:0001589	frameshift_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150232_133150233insT	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1600dupA	8.37:g.133150241_133150241dupT	ENSP00000373648:p.Phe534fs					KCNQ3_uc010mdt.2_Frame_Shift_Ins_p.K533fs	p.K533fs	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	1824_1825	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		533_534					A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Ins	INS	ENST00000388996.4	37	c.1599_1600insA	CCDS34943.1																																																																																				0.455	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		7	233	NA	NA	NA	NA	NA	7	233	---	---	---	---
